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Mutations on the Protein: Q7Z406 From Positions: 898 To 998

4
2
0
2



Swiss-Prot Disease: VAR_066338
p.ARG933LEU
N/A
N/A
Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH)


Swiss-Prot Disease: VAR_022869
p.LEU976PHE
N/A
N/A
Deafness, autosomal dominant, 4A (DFNA4A)


OMIM Disease: 608568.0006
p.ARG900LEU
N/A
N/A
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS


OMIM Disease: 608568.0002
p.LEU935PHE
N/A
N/A
DEAFNESS, AUTOSOMAL DOMINANT 4






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