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Mutations on the Protein: P54098 From Positions: 434 To 496

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3
0
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Swiss-Prot Disease: VAR_012155
p.ALA467THR
N/A
N/A
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)


Swiss-Prot Disease: VAR_023668
p.ASN468ASP
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Polymorphism: VAR_058877
p.LEU463PHE
N/A
N/A
N/A


OMIM Disease: 174763.0002
p.ALA467THR
N/A
N/A
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE||SENSORY ATAXIC NEUROPATHY,






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