Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.L113Fs
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HGSNAT

NM_152419.3:p.L113Fs

Associated Papers

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Van Schil K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.

Van Cauwenbergh C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.

Van Cauwenbergh C et al.

Plos One, 2017

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