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Mutations on the Protein: P13647 From Positions: 0 To 30

4
1
0
3


Swiss-Prot Disease: VAR_010453
p.PRO25LEU
N/A
N/A
Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS)


OMIM Disease: 148040.0009
p.PRO25LEU
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION


OMIM Disease: 148040.0019
p.SER5TER
N/A
N/A
DOWLING-DEGOS DISEASE 1


OMIM Disease: 148040.0010
p.VAL7ALA
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED






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