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Mutations on the Protein: P13647 From Positions: 325 To 354

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Swiss-Prot Disease: VAR_003875
p.ARG331CYS
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_027725
p.ARG331HIS
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_031644
p.ARG352SER
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_010465
p.ASN329LYS
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_026542
p.ASP328GLU
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_026543
p.ASP328GLY
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_010463
p.ASP328HIS
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_010464
p.ASP328VAL
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_010461
p.LEU325PRO
N/A
N/A
Epidermolysis bullosa simplex, Koebner type (K-EBS)


Swiss-Prot Disease: VAR_010462
p.MET327LYS
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_003874
p.MET327THR
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


OMIM Disease: 148040.0005
p.ASN329LYS
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED


OMIM Disease: 148040.0004
p.MET327THR
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED






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