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Variant profile

c.127G>A

c.127G>A · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
1Associated gene records
2Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
NDUFAF2HGNC:2808611

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
intellectual disabilityHP:000124911
epilepsyHP:000125011

Associated population records

Co-mentioned in the same publications

No retained population associations.

Supporting publications

1 records
  1. 2025Mutation of NDUFAF2 Linked to Mitochondrial Complex I Deficiency.CureusPubMed ↗