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Mutations on the Protein: P54098 From Positions: 620 To 681

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Swiss-Prot Disease: VAR_058883
p.ARG627GLN
N/A
N/A
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)


Swiss-Prot Disease: VAR_023672
p.ARG627TRP
N/A
N/A
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)


Swiss-Prot Polymorphism: VAR_014907
p.GLU662LYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_058884
p.PRO648ARG
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


OMIM Disease: 174763.0005
p.ARG627TRP
N/A
N/A
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS






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