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Mutations on the Protein: P13647 From Positions: 443 To 472

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Swiss-Prot Disease: VAR_010466
p.ILE467THR
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


Swiss-Prot Disease: VAR_003876
p.LEU463PRO
N/A
N/A
Epidermolysis bullosa simplex, Koebner type (K-EBS)


Swiss-Prot Disease: VAR_027726
p.THR469PRO
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


OMIM Disease: 148040.0002
p.LEU462PRO
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED


OMIM Disease: 148040.0016
p.LYS472TER
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR||KERATOSIS






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