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Mutations on the Protein: P02545 From Positions: 598 To 631

6
3
0
3


Swiss-Prot Disease: VAR_039791
p.ARG624HIS
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_064976
p.GLY602SER
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_017664
p.GLY608SER
N/A
N/A
Hutchinson-Gilford progeria syndrome (HGPS)


OMIM Disease: 150330.0022
p.GLY608GLY
N/A
N/A
HUTCHINSON-GILFORD PROGERIA SYNDROME||RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED


OMIM Disease: 150330.0023
p.GLY608SER
N/A
N/A
HUTCHINSON-GILFORD PROGERIA SYNDROME


OMIM Disease: 150330.0040
p.VAL607VAL
N/A
N/A
HUTCHINSON-GILFORD PROGERIA SYNDROME






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