Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.Y53*
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KCNV2

NM_133497.4:p.Y53*

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Sensing through Non-Sensing Ocular Ion Channels.

Kabra M et al.

International Journal of Molecular Sciences, 2020

Analysis of retinal structure and function in cone dystrophy with supernormal rod response.

Abdelkader E et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2020

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

'Cone dystrophy with supranormal rod response' in children.

Khan AO et al.

The British Journal of Ophthalmology, 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."