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Mutations on the Protein: P13647 From Positions: 472 To 502

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3
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Swiss-Prot Disease: VAR_003877
p.GLU475GLY
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


Swiss-Prot Disease: VAR_023728
p.GLU475LYS
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


Swiss-Prot Disease: VAR_010467
p.GLU477LYS
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


OMIM Disease: 148040.0001
p.GLU475GLY
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE


OMIM Disease: 148040.0015
p.GLU477TER
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR||KERATODERMA


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






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