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Mutations on the Protein: P54098 From Positions: 867 To 929

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Swiss-Prot Disease: VAR_023677
p.ALA889THR
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)


Swiss-Prot Disease: VAR_058890
p.GLN879HIS
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


Swiss-Prot Disease: VAR_023678
p.GLY923ASP
N/A
N/A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)


Swiss-Prot Disease: VAR_058892
p.THR914PRO
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


Swiss-Prot Disease: VAR_058891
p.THR885SER
N/A
N/A
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)


OMIM Disease: 174763.0008
p.GLU873TER
N/A
N/A
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)






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