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Variant profile

c.775delA

c.775delA · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
7Associated gene records
2Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
LZTFL1HGNC:674111
IFT27HGNC:1862611
BBIP1HGNC:2809311
WDPCPHGNC:2802711
MKKSHGNC:710811
BBS5HGNC:97011
BBS1HGNC:96611

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
obesityHP:000151311
Bardet-Biedl syndrome11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 1011

Supporting publications

1 records
  1. 2023Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.GenesPubMed ↗