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Variant profile

p.His120Gln

p.His120Gln · 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
SLC31A1HGNC:1101611

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
neurodevelopmental disorderHP:001275911

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 1311

Supporting publications

1 records
  1. 2025Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.Brain communicationsPubMed ↗