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Mutations on the Protein: P54098 From Positions: 991 To 1053

4
2
0
2



Swiss-Prot Disease: VAR_023683
p.ARG1047GLN
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_023684
p.GLY1051ARG
N/A
N/A
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)


OMIM Disease: 174763.0010
p.GLY1051ARG
N/A
N/A
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS


OMIM Disease: 174763.0017
p.TRP1020TER
N/A
N/A
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)






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