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Mutations on the Protein: P02545 From Positions: 266 To 299

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Swiss-Prot Disease: VAR_017661
p.ARG298CYS
N/A
N/A
Charcot-Marie-Tooth disease 2B1 (CMT2B1)


Swiss-Prot Disease: VAR_009982
p.GLN294PRO
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_064966
p.LEU271PRO
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_064965
p.SER268PRO
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_064967
p.SER295PRO
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_039774
p.TYR267CYS
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


OMIM Disease: 150330.0020
p.ARG298CYS
N/A
N/A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1






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