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Variant profile

c.1167-24A>G

c.1167-24A>G · SaudiVarKB evidence summary derived from retained literature mentions.

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

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
COG6HGNC:1862111
STX6HGNC:1144111

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
Saudi Arabia11

Supporting publications

1 records
  1. 2013A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.Journal of medical geneticsPubMed ↗