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Gene profile

NDUFAF2

HGNC:28086 · SaudiVarKB evidence summary derived from retained literature mentions.

1Gene mentions
1Publications
1Linked variants
2Associated phenotypes

Associated phenotypes

Co-mentioned in NDUFAF2 publications
PhenotypeIdentifierArticlesMentions
intellectual disabilityHP:000124911
epilepsyHP:000125011

Linked variants

Variants normalized to NDUFAF2
VariantHGVS / rsIDArticlesMentions
c.127G>Ac.127G>A11

Population context

Reported in the same publications
Country / regionGroupCohortArticles

No structured population context is available.

Supporting publications

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