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Mutations on the Protein:
NP_001124388
From Positions:
107
To
128
1
0
0
1
OMIM Disease:
190181.0003
p.THR123ILE
N/A
190181.0003
N/A
LOEYS-DIETZ SYNDROME, TYPE 1A
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 21250 | Department of Biological Sciences | Phone: 410-455-2258
1
0
0
1
p.THR123ILE
N/A
N/A
LOEYS-DIETZ SYNDROME, TYPE 1A