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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 5, 2024. (Total: 232220Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Keratoconus and RAB3GAP1[original query]
A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. GWAS Catalog
Human molecular genetics 2012 Jan 21 (2): 421-9.
Li Xiaohui, Bykhovskaya Yelena, Haritunians Talin, Siscovick David, Aldave Anthony, Szczotka-Flynn Loretta, Iyengar Sudha K, Rotter Jerome I, Taylor Kent D, Rabinowitz Yaron
Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus.
Investigative ophthalmology & visual science 2013 Jul 54 (7): 5132-5.
Bae Ha Ae, Mills Richard A D, Lindsay Richard G, Phillips Tony, Coster Douglas J, Mitchell Paul, Wang Jie Jin, Craig Jamie E, Burdon Kathryn
Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population.
Ophthalmic genetics 2015 Jun 36 (2): 132-6.
Hao Xiao-Dan, Chen Peng, Chen Zhao-Li, Li Su-Xia, Wang
Replication of SNP associations with keratoconus in a Czech cohort.
PloS one 2017 12 (2): e0172365.
Liskova Petra, Dudakova Lubica, Krepelova Anna, Klema Jiri, Hysi Pirro
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
PloS one 2018 13 (6): e0199178.
Lucas Sionne E M, Zhou Tiger, Blackburn Nicholas B, Mills Richard A, Ellis Jonathan, Leo Paul, Souzeau Emmanuelle, Ridge Bronwyn, Charlesworth Jac C, Lindsay Richard, Craig Jamie E, Burdon Kathryn
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