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Mutations on the Protein: P54098 From Positions: 743 To 805

3
2
0
1


Swiss-Prot Disease: VAR_058886
p.ALA767ASP
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


Swiss-Prot Disease: VAR_023673
p.TRP748SER
N/A
N/A
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)


OMIM Disease: 174763.0013
p.TRP748SER
N/A
N/A
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED;;||MITOCHOND






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