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Mutations on the Protein: P15924 From Positions: 2297 To 2440

4
2
0
2




Swiss-Prot Disease: VAR_015570
p.ARG2366CYS
N/A
N/A
Skin fragility-woolly hair syndrome (SFWHS)


Swiss-Prot Polymorphism: VAR_018158
p.GLY2375ARG
N/A
N/A
N/A


OMIM Disease: 125647.0006
p.ARG2366CYS
N/A
N/A
SKIN FRAGILITY-WOOLLY HAIR SYNDROME


OMIM Disease: 125647.0013
p.ARG2366HIS
N/A
N/A
SKIN FRAGILITY-WOOLLY HAIR SYNDROME






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