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Known Diseases associated with this Protein: | WILSON DISEASE
| WILSON DISEASE (WD)
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| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_023010 | Polymorphism | p.ALA14ASP | N/A | Swiss-Prot | VAR_000771 | Disease | p.ALA1183GLY | Wilson disease (WD) | Swiss-Prot | VAR_044462 | Disease | p.ALA756GLY | Wilson disease (WD) | Swiss-Prot | VAR_044475 | Disease | p.ALA1065PRO | Wilson disease (WD) | Swiss-Prot | VAR_044457 | Disease | p.ALA604PRO | Wilson disease (WD) | Swiss-Prot | VAR_023034 | Disease | p.ALA1168SER | Wilson disease (WD) | Swiss-Prot | VAR_000791 | Disease | p.ALA1358SER | Wilson disease (WD) | Swiss-Prot | VAR_044454 | Disease | p.ALA486SER | Wilson disease (WD) | Swiss-Prot | VAR_000751 | Disease | p.ALA1003THR | Wilson disease (WD) | Swiss-Prot | VAR_000772 | Disease | p.ALA1183THR | Wilson disease (WD) | Swiss-Prot | VAR_058936 | Disease | p.ALA1328THR | Wilson disease (WD) | Swiss-Prot | VAR_044466 | Disease | p.ALA861THR | Wilson disease (WD) | Swiss-Prot | VAR_009013 | Disease | p.ALA1003VAL | Wilson disease (WD) | Swiss-Prot | VAR_000752 | Disease | p.ALA1018VAL | Wilson disease (WD) | Swiss-Prot | VAR_009018 | Disease | p.ALA1063VAL | Wilson disease (WD) | Swiss-Prot | VAR_000785 | Polymorphism | p.ALA1278VAL | N/A | Swiss-Prot | VAR_000737 | Disease | p.ALA874VAL | Wilson disease (WD) | Swiss-Prot | VAR_058927 | Disease | p.ALA971VAL | Wilson disease (WD) | Swiss-Prot | VAR_009004 | Disease | p.ARG616GLN | Wilson disease (WD) | Swiss-Prot | VAR_000729 | Disease | p.ARG778GLN | Wilson disease (WD) | Swiss-Prot | VAR_000747 | Disease | p.ARG969GLN | Wilson disease (WD) | Swiss-Prot | VAR_000722 | Polymorphism | p.ARG723GLY | N/A | Swiss-Prot | VAR_000727 | Disease | p.ARG778GLY | Wilson disease (WD) | Swiss-Prot | VAR_000739 | Disease | p.ARG919GLY | Wilson disease (WD) | Swiss-Prot | VAR_009022 | Disease | p.ARG1151HIS | Wilson disease (WD) | Swiss-Prot | VAR_000728 | Disease | p.ARG778LEU | Wilson disease (WD) | Swiss-Prot | VAR_010015 | Disease | p.ARG1038LYS | Wilson disease (WD) | dbSNP | rs732774 | Polymorphism | p.ARG952LYS | N/A | Swiss-Prot | VAR_009015 | Disease | p.ARG1041PRO | Wilson disease (WD) | Swiss-Prot | VAR_000788 | Disease | p.ARG1322PRO | Wilson disease (WD) | Swiss-Prot | VAR_058933 | Disease | p.ARG1228THR | Wilson disease (WD) | Swiss-Prot | VAR_000754 | Polymorphism | p.ARG1041TRP | N/A | Swiss-Prot | VAR_023012 | Disease | p.ARG616TRP | Wilson disease (WD) | Swiss-Prot | VAR_000730 | Disease | p.ARG778TRP | Wilson disease (WD) | Swiss-Prot | VAR_000740 | Disease | p.ARG919TRP | Wilson disease (WD) | Swiss-Prot | VAR_067337 | Disease | p.ASN1332ASP | Wilson disease (WD) | Swiss-Prot | VAR_000783 | Disease | p.ASN1270SER | Wilson disease (WD) | Swiss-Prot | VAR_023011 | Disease | p.ASN41SER | Wilson disease (WD) | Swiss-Prot | VAR_000711 | Polymorphism | p.ASN565SER | N/A | Swiss-Prot | VAR_000782 | Disease | p.ASP1267ALA | Wilson disease (WD) | Swiss-Prot | VAR_058931 | Disease | p.ASP1164ASN | Wilson disease (WD) | Swiss-Prot | VAR_044481 | Disease | p.ASP1222ASN | Wilson disease (WD) | Swiss-Prot | VAR_023039 | Disease | p.ASP1271ASN | Wilson disease (WD) | Swiss-Prot | VAR_044486 | Disease | p.ASP1296ASN | Wilson disease (WD) | Swiss-Prot | VAR_000724 | Disease | p.ASP765ASN | Wilson disease (WD) | Swiss-Prot | VAR_000738 | Disease | p.ASP918ASN | Wilson disease (WD) | Swiss-Prot | VAR_044495 | Polymorphism | p.ASP1407GLU | N/A | Swiss-Prot | VAR_023025 | Disease | p.ASP918GLU | Wilson disease (WD) | Swiss-Prot | VAR_023040 | Disease | p.ASP1279GLY | Wilson disease (WD) | Swiss-Prot | VAR_023019 | Disease | p.ASP765GLY | Wilson disease (WD) | Swiss-Prot | VAR_000713 | Disease | p.ASP642HIS | Wilson disease (WD) | Swiss-Prot | VAR_000779 | Disease | p.ASP1222TYR | Wilson disease (WD) | Swiss-Prot | VAR_044484 | Disease | p.ASP1279TYR | Wilson disease (WD) | Swiss-Prot | VAR_010020 | Disease | p.ASP1222VAL | Wilson disease (WD) | Swiss-Prot | VAR_058935 | Disease | p.ASP1267VAL | Wilson disease (WD) | Swiss-Prot | VAR_009021 | Disease | p.CYS1104PHE | Wilson disease (WD) | Swiss-Prot | VAR_044493 | Disease | p.CYS1375SER | Wilson disease (WD) | Swiss-Prot | VAR_044476 | Disease | p.CYS1104TYR | Wilson disease (WD) | Swiss-Prot | VAR_044460 | Disease | p.CYS703TYR | Wilson disease (WD) | Swiss-Prot | VAR_009012 | Disease | p.CYS985TYR | Wilson disease (WD) | Swiss-Prot | VAR_044483 | Disease | p.GLN1256ARG | Wilson disease (WD) | Swiss-Prot | VAR_023024 | Disease | p.GLN898ARG | Wilson disease (WD) | Swiss-Prot | VAR_000766 | Disease | p.GLN1142HIS | Wilson disease (WD) | Swiss-Prot | VAR_058929 | Disease | p.GLN1004PRO | Wilson disease (WD) | Swiss-Prot | VAR_009020 | Disease | p.GLN1095PRO | Wilson disease (WD) | Swiss-Prot | VAR_000756 | Disease | p.GLU1064ALA | Wilson disease (WD) | Swiss-Prot | VAR_009019 | Disease | p.GLU1068GLY | Wilson disease (WD) | Swiss-Prot | VAR_058932 | Disease | p.GLU1173GLY | Wilson disease (WD) | Swiss-Prot | VAR_000757 | Disease | p.GLU1064LYS | Wilson disease (WD) | Swiss-Prot | VAR_009024 | Disease | p.GLU1173LYS | Wilson disease (WD) | Swiss-Prot | VAR_058930 | Disease | p.GLY1149ALA | Wilson disease (WD) | Swiss-Prot | VAR_000712 | Disease | p.GLY626ALA | Wilson disease (WD) | Swiss-Prot | VAR_010010 | Disease | p.GLY710ALA | Wilson disease (WD) | Swiss-Prot | VAR_044473 | Disease | p.GLY1000ARG | Wilson disease (WD) | Swiss-Prot | VAR_000762 | Disease | p.GLY1101ARG | Wilson disease (WD) | Swiss-Prot | VAR_010019 | Disease | p.GLY1176ARG | Wilson disease (WD) | Swiss-Prot | VAR_009028 | Disease | p.GLY1266ARG | Wilson disease (WD) | Swiss-Prot | VAR_067338 | Disease | p.GLY1341ARG | Wilson disease (WD) | Swiss-Prot | VAR_000716 | Disease | p.GLY691ARG | Wilson disease (WD) | Swiss-Prot | VAR_000718 | Disease | p.GLY710ARG | Wilson disease (WD) | Swiss-Prot | VAR_009006 | Disease | p.GLY711ARG | Wilson disease (WD) | Swiss-Prot | VAR_000736 | Disease | p.GLY869ARG | Wilson disease (WD) | Swiss-Prot | VAR_023022 | Polymorphism | p.GLY875ARG | N/A | Swiss-Prot | VAR_044469 | Disease | p.GLY988ARG | Wilson disease (WD) | Swiss-Prot | VAR_023032 | Disease | p.GLY1111ASP | Wilson disease (WD) | Swiss-Prot | VAR_000789 | Disease | p.GLY1341ASP | Wilson disease (WD) | Swiss-Prot | VAR_044456 | Disease | p.GLY591ASP | Wilson disease (WD) | Swiss-Prot | VAR_000744 | Disease | p.GLY943ASP | Wilson disease (WD) | Swiss-Prot | VAR_000704 | Polymorphism | p.GLY96ASP | N/A | Swiss-Prot | VAR_067336 | Disease | p.GLY998ASP | Wilson disease (WD) | Swiss-Prot | VAR_000773 | Disease | p.GLY1186CYS | Wilson disease (WD) | Swiss-Prot | VAR_023043 | Disease | p.GLY1355CYS | Wilson disease (WD) | Swiss-Prot | VAR_044468 | Disease | p.GLY943CYS | Wilson disease (WD) | Swiss-Prot | VAR_009017 | Disease | p.GLY1061GLU | Wilson disease (WD) | Swiss-Prot | VAR_000760 | Disease | p.GLY1089GLU | Wilson disease (WD) | Swiss-Prot | VAR_044478 | Disease | p.GLY1176GLU | Wilson disease (WD) | Swiss-Prot | VAR_044480 | Disease | p.GLY1221GLU | Wilson disease (WD) | Swiss-Prot | VAR_000720 | Disease | p.GLY711GLU | Wilson disease (WD) | Swiss-Prot | VAR_023031 | Disease | p.GLY1099SER | Wilson disease (WD) | Swiss-Prot | VAR_000774 | Disease | p.GLY1186SER | Wilson disease (WD) | Swiss-Prot | VAR_044485 | Disease | p.GLY1287SER | Wilson disease (WD) | Swiss-Prot | VAR_044489 | Disease | p.GLY1341SER | Wilson disease (WD) | Swiss-Prot | VAR_010021 | Disease | p.GLY1355SER | Wilson disease (WD) | Swiss-Prot | VAR_000719 | Disease | p.GLY710SER | Wilson disease (WD) | Swiss-Prot | VAR_000745 | Disease | p.GLY943SER | Wilson disease (WD) | Swiss-Prot | VAR_009007 | Disease | p.GLY711TRP | Wilson disease (WD) | Swiss-Prot | VAR_000753 | Disease | p.GLY1035VAL | Wilson disease (WD) | Swiss-Prot | VAR_000761 | Disease | p.GLY1089VAL | Wilson disease (WD) | Swiss-Prot | VAR_000775 | Disease | p.GLY1213VAL | Wilson disease (WD) | Swiss-Prot | VAR_000781 | Disease | p.GLY1266VAL | Wilson disease (WD) | Swiss-Prot | VAR_044490 | Disease | p.GLY1341VAL | Wilson disease (WD) | Swiss-Prot | VAR_044461 | Disease | p.GLY710VAL | Wilson disease (WD) | Swiss-Prot | VAR_000703 | Disease | p.GLY85VAL | Wilson disease (WD) | Swiss-Prot | VAR_009011 | Disease | p.GLY869VAL | Wilson disease (WD) | Swiss-Prot | VAR_044467 | Disease | p.GLY875VAL | Wilson disease (WD) | Swiss-Prot | VAR_010012 | Disease | p.GLY891VAL | Wilson disease (WD) | dbSNP | rs7334118 | Polymorphism | p.HIS1207ARG | N/A | Swiss-Prot | VAR_000758 | Disease | p.HIS1069GLN | Wilson disease (WD) | Swiss-Prot | VAR_044458 | Disease | p.HIS639TYR | Wilson disease (WD) | Swiss-Prot | VAR_000723 | Disease | p.ILE747PHE | Wilson disease (WD) | dbSNP | rs60003608 | Polymorphism | p.ILE967PHE | N/A | Swiss-Prot | VAR_010013 | Disease | p.ILE967PHE | Wilson disease (WD) | Swiss-Prot | VAR_000763 | Disease | p.ILE1102THR | Wilson disease (WD) | Swiss-Prot | VAR_000768 | Disease | p.ILE1148THR | Wilson disease (WD) | Swiss-Prot | VAR_023042 | Disease | p.ILE1336THR | Wilson disease (WD) | Swiss-Prot | VAR_000734 | Disease | p.ILE857THR | Wilson disease (WD) | Swiss-Prot | VAR_058934 | Disease | p.ILE1230VAL | Wilson disease (WD) | Swiss-Prot | VAR_000705 | Polymorphism | p.ILE390VAL | N/A | Swiss-Prot | VAR_023045 | Disease | p.LEU1373ARG | Wilson disease (WD) | Swiss-Prot | VAR_009010 | Disease | p.LEU795ARG | Wilson disease (WD) | Swiss-Prot | VAR_023038 | Disease | p.LEU1255ILE | Wilson disease (WD) | Swiss-Prot | VAR_000759 | Disease | p.LEU1083PHE | Wilson disease (WD) | Swiss-Prot | VAR_000731 | Disease | p.LEU795PHE | Wilson disease (WD) | Swiss-Prot | VAR_000755 | Disease | p.LEU1043PRO | Wilson disease (WD) | Swiss-Prot | VAR_023041 | Disease | p.LEU1305PRO | Wilson disease (WD) | Swiss-Prot | VAR_044492 | Disease | p.LEU1368PRO | Wilson disease (WD) | Swiss-Prot | VAR_023044 | Disease | p.LEU1373PRO | Wilson disease (WD) | Swiss-Prot | VAR_067335 | Disease | p.LEU549PRO | Wilson disease (WD) | Swiss-Prot | VAR_000717 | Disease | p.LEU708PRO | Wilson disease (WD) | Swiss-Prot | VAR_044465 | Disease | p.LEU776PRO | Wilson disease (WD) | Swiss-Prot | VAR_000710 | Disease | p.LEU492SER | Wilson disease (WD) | Swiss-Prot | VAR_023013 | Disease | p.LEU641SER | Wilson disease (WD) | Swiss-Prot | VAR_009030 | Disease | p.LEU1327VAL | Wilson disease (WD) | Swiss-Prot | VAR_000709 | Polymorphism | p.LEU466VAL | N/A | Swiss-Prot | VAR_000726 | Polymorphism | p.LEU776VAL | N/A | dbSNP | rs1061472 | Polymorphism | p.LYS832ARG | N/A | Swiss-Prot | VAR_023037 | Disease | p.LYS1248ASN | Wilson disease (WD) | Swiss-Prot | VAR_000714 | Disease | p.MET645ARG | Wilson disease (WD) | Swiss-Prot | VAR_009009 | Disease | p.MET769ARG | Wilson disease (WD) | Swiss-Prot | VAR_058937 | Disease | p.MET1359ILE | Wilson disease (WD) | Swiss-Prot | VAR_000715 | Disease | p.MET665ILE | Wilson disease (WD) | Swiss-Prot | VAR_023021 | Disease | p.MET769ILE | Wilson disease (WD) | Swiss-Prot | VAR_009023 | Disease | p.MET1169THR | Wilson disease (WD) | Swiss-Prot | VAR_044472 | Disease | p.MET996THR | Wilson disease (WD) | Swiss-Prot | VAR_000770 | Disease | p.MET1169VAL | Wilson disease (WD) | Swiss-Prot | VAR_000725 | Disease | p.MET769VAL | Wilson disease (WD) | Swiss-Prot | VAR_023029 | Disease | p.PHE1094LEU | Wilson disease (WD) | Swiss-Prot | VAR_023030 | Disease | p.PRO1098ARG | Wilson disease (WD) | Swiss-Prot | VAR_023020 | Disease | p.PRO768HIS | Wilson disease (WD) | Swiss-Prot | VAR_044471 | Disease | p.PRO992HIS | Wilson disease (WD) | Swiss-Prot | VAR_009016 | Disease | p.PRO1052LEU | Wilson disease (WD) | Swiss-Prot | VAR_000784 | Disease | p.PRO1273LEU | Wilson disease (WD) | Swiss-Prot | VAR_023014 | Disease | p.PRO690LEU | Wilson disease (WD) | Swiss-Prot | VAR_023018 | Disease | p.PRO760LEU | Wilson disease (WD) | Swiss-Prot | VAR_000733 | Disease | p.PRO840LEU | Wilson disease (WD) | Swiss-Prot | VAR_000749 | Disease | p.PRO992LEU | Wilson disease (WD) | Swiss-Prot | VAR_023036 | Polymorphism | p.PRO1245SER | N/A | Swiss-Prot | VAR_044491 | Disease | p.PRO1352SER | Wilson disease (WD) | Swiss-Prot | VAR_044494 | Disease | p.PRO1379SER | Wilson disease (WD) | dbSNP | rs1801243 | Polymorphism | p.SER406ALA | N/A | Swiss-Prot | VAR_000787 | Disease | p.SER1310ARG | Wilson disease (WD) | Swiss-Prot | VAR_058926 | Disease | p.SER657ARG | Wilson disease (WD) | Swiss-Prot | VAR_000741 | Disease | p.SER921ASN | Wilson disease (WD) | Swiss-Prot | VAR_023015 | Disease | p.SER693CYS | Wilson disease (WD) | Swiss-Prot | VAR_009031 | Disease | p.SER1363PHE | Wilson disease (WD) | Swiss-Prot | VAR_023016 | Disease | p.SER721PRO | Wilson disease (WD) | Swiss-Prot | VAR_009008 | Disease | p.SER744PRO | Wilson disease (WD) | Swiss-Prot | VAR_044459 | Disease | p.SER653TYR | Wilson disease (WD) | Swiss-Prot | VAR_023027 | Disease | p.SER975TYR | Wilson disease (WD) | Swiss-Prot | VAR_009014 | Disease | p.THR1033ALA | Wilson disease (WD) | Swiss-Prot | VAR_023017 | Disease | p.THR737ARG | Wilson disease (WD) | Swiss-Prot | VAR_044464 | Disease | p.THR766ARG | Wilson disease (WD) | Swiss-Prot | VAR_023033 | Polymorphism | p.THR1143ASN | N/A | Swiss-Prot | VAR_044474 | Disease | p.THR1029ILE | Wilson disease (WD) | Swiss-Prot | VAR_010014 | Disease | p.THR1031ILE | Wilson disease (WD) | Swiss-Prot | VAR_000778 | Disease | p.THR1220MET | Wilson disease (WD) | Swiss-Prot | VAR_009032 | Disease | p.THR1434MET | Wilson disease (WD) | Swiss-Prot | VAR_044463 | Disease | p.THR766MET | Wilson disease (WD) | Swiss-Prot | VAR_000743 | Disease | p.THR935MET | Wilson disease (WD) | Swiss-Prot | VAR_058928 | Disease | p.THR974MET | Wilson disease (WD) | Swiss-Prot | VAR_000748 | Disease | p.THR977MET | Wilson disease (WD) | Swiss-Prot | VAR_044470 | Disease | p.THR991MET | Wilson disease (WD) | Swiss-Prot | VAR_023035 | Disease | p.THR1232PRO | Wilson disease (WD) | Swiss-Prot | VAR_000742 | Disease | p.THR933PRO | Wilson disease (WD) | Swiss-Prot | VAR_023028 | Disease | p.THR1033SER | Wilson disease (WD) | Swiss-Prot | VAR_010018 | Disease | p.TRP1153ARG | Wilson disease (WD) | Swiss-Prot | VAR_000790 | Disease | p.TRP1353ARG | Wilson disease (WD) | Swiss-Prot | VAR_000769 | Disease | p.TRP1153CYS | Wilson disease (WD) | Swiss-Prot | VAR_000721 | Disease | p.TYR713CYS | Wilson disease (WD) | Swiss-Prot | VAR_010011 | Disease | p.TYR741CYS | Wilson disease (WD) | Swiss-Prot | VAR_044455 | Disease | p.TYR532HIS | Wilson disease (WD) | Swiss-Prot | VAR_044488 | Disease | p.TYR1331SER | Wilson disease (WD) | dbSNP | rs1801249 | Polymorphism | p.VAL1140ALA | N/A | Swiss-Prot | VAR_058925 | Disease | p.VAL536ALA | Wilson disease (WD) | Swiss-Prot | VAR_000750 | Polymorphism | p.VAL995ALA | N/A | Swiss-Prot | VAR_010017 | Disease | p.VAL1106ASP | Wilson disease (WD) | Swiss-Prot | VAR_009026 | Disease | p.VAL1239GLY | Wilson disease (WD) | Swiss-Prot | VAR_023026 | Disease | p.VAL949GLY | Wilson disease (WD) | Swiss-Prot | VAR_044477 | Disease | p.VAL1106ILE | Wilson disease (WD) | Swiss-Prot | VAR_044482 | Disease | p.VAL1252ILE | Wilson disease (WD) | Swiss-Prot | VAR_009029 | Polymorphism | p.VAL1297ILE | N/A | Swiss-Prot | VAR_000735 | Polymorphism | p.VAL864ILE | N/A | Swiss-Prot | VAR_044453 | Polymorphism | p.VAL290LEU | N/A | Swiss-Prot | VAR_000707 | Polymorphism | p.VAL446LEU | N/A | dbSNP | rs1801244 | Polymorphism | p.VAL456LEU | N/A | Swiss-Prot | VAR_000764 | Polymorphism | p.VAL1109MET | N/A | Swiss-Prot | VAR_000767 | Disease | p.VAL1146MET | Wilson disease (WD) | Swiss-Prot | VAR_000776 | Disease | p.VAL1216MET | Wilson disease (WD) | Swiss-Prot | VAR_023023 | Disease | p.VAL890MET | Wilson disease (WD) | Swiss-Prot | VAR_009027 | Disease | p.VAL1262PHE | Wilson disease (WD) | OMIM | 606882.0016 | Disease | p.ALA874VAL | WILSON DISEASE | OMIM | 606882.0018 | Disease | p.ARG969GLN | WILSON DISEASE | OMIM | 606882.0014 | Disease | p.ARG919GLY | WILSON DISEASE | OMIM | 606882.0009 | Disease | p.ARG778LEU | WILSON DISEASE | OMIM | 606882.0017 | Disease | p.ASN1270SER | WILSON DISEASE | OMIM | 606882.0003 | Disease | p.ASN915SER | WILSON DISEASE | OMIM | 606882.0012 | Disease | p.ASP765ASN | WILSON DISEASE | OMIM | 606882.0022 | Disease | p.GLN289TER | WILSON DISEASE | OMIM | 606882.0021 | Disease | p.GLY1176ARG | WILSON DISEASE | OMIM | 606882.0007 | Disease | p.GLY1267ARG | WILSON DISEASE | OMIM | 606882.0024 | Disease | p.GLY691ARG | WILSON DISEASE | OMIM | 606882.0013 | Disease | p.GLY943SER | WILSON DISEASE | OMIM | 606882.0006 | Disease | p.HIS1069GLN | WILSON DISEASE | OMIM | 606882.0002 | Disease | p.HIS714GLN | WILSON DISEASE | OMIM | 606882.0021 606882.0025 | Disease | p.ILE1148THR | WILSON DISEASE | OMIM | 606882.0023 | Disease | p.LEU708PRO | WILSON DISEASE | OMIM | 606882.0020 | Disease | p.MET645ARG | WILSON DISEASE | OMIM | 606882.0019 | Disease | p.THR766ARG | WILSON DISEASE |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
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