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Mutations on the Protein: Q96RP9 From Positions: 150 To 188

3
1
1
1






















dbSNP Polymorphism: rs34297061
p.ASN159SER
N/A
N/A
N/A


Swiss-Prot Disease: VAR_021512
p.ASN174SER
N/A
N/A
Combined oxidative phosphorylation deficiency 1 (COXPD1)


OMIM Disease: 606639.0001
p.ASN174SER
N/A
N/A
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1






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