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Mutations on the Protein: P13647 From Positions: 413 To 443

3
2
0
1



Swiss-Prot Disease: VAR_023727
p.ALA438ASP
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_026544
p.GLU418LYS
N/A
N/A
Epidermolysis bullosa simplex, Koebner type (K-EBS)


OMIM Disease: 148040.0021
p.GLU418LYS
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1






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