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Mutations on the Protein:
O43520
From Positions:
1001
To
1063
1
1
0
0
Swiss-Prot Disease:
VAR_043073
p.GLY1040ARG
N/A
N/A
VAR_043073
Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
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
1
0
0
p.GLY1040ARG
N/A
N/A
Cholestasis, progressive familial intrahepatic, 1 (PFIC1)