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Variant profile

p.Ala9Thr

p.Ala9Thr · SaudiVarKB evidence summary derived from retained literature mentions.

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

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
EIF2B3HGNC:325911

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
ulcerative colitis11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 2111

Supporting publications

1 records
  1. 2024Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review.CureusPubMed ↗