Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.Y108_L110delFs
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KCNV2

NM_133497.4:p.Y108_L110delFs

Associated Papers

KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.

Guimaraes TAC et al.

Ophthalmic Genetics, 2020

32441199 (PubMed )
Supplement: IOPG_A_1766087_SM2520.pdf

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

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

Wissinger B et al.

Human Mutation, 2011

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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."