Varaico: Literature-Extracted Genetic Variants

Gene:ADGRV1
Variant:p.R2286*
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ADGRV1

NM_032119.4:p.R2286*

Associated Papers

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

Lin S et al.

Ophthalmology. Retina, 2024

38219857 (PubMed )
Supplement: mmc1.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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."