Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.R189Q
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USH1G

NM_173477.5:p.R189Q

Associated Papers

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

Doucette LP et al.

European Journal of Human Genetics : Ejhg, 2021

33776059 (PubMed )
Supplement: 41431_2021_872_MOESM1_ESM.xlsx › Sheet1

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM et al.

Plos One, 2014

25133751 (PubMed )
Supplement: pone.0104281.s001.pdf

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P et al.

Journal of Medical Genetics, 2012

22135276 (PubMed )
Supplement: jmedgenet-2011-100468-s5.pdf
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