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Variant profile

p.Asp615Glu

p.Asp615Glu · 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
ABCA2HGNC:3211

Associated phenotype records

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

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 1711

Supporting publications

1 records
  1. 2026Expanding the ABCA2-associated neurodevelopmental phenotype.HGG advancesPubMed ↗