Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.S256S
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KCNV2

NM_133497.4:p.S256S

Associated Papers

Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.

Glinton SL et al.

Translational Vision Science & Technology, 2022

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Cremers FPM et al.

Progress in Retinal and Eye Research, 2020

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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."