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Variant profile

p.Asn291Asp

p.Asn291Asp · SaudiVarKB evidence summary derived from retained literature mentions.

2Variant mentions
2Publications
1Associated gene records
0Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
SLC25A42HGNC:2838022

Associated phenotype records

Co-mentioned in the same publications

No retained phenotype associations.

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 2411
Saudi ArabiaCohort 1511

Supporting publications

2 records
  1. 2026SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.Clinical geneticsPubMed ↗
  2. 2021SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.JIMD reportsPubMed ↗