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Variant profile

c.902G>A

c.902G>A · SaudiVarKB evidence summary derived from retained literature mentions.

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

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
DPAGT1HGNC:299511
ALG9HGNC:1567211

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
epilepsyHP:000125011
developmental delayHP:000126311

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 1811

Supporting publications

1 records
  1. 2012Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.JIMD reportsPubMed ↗