Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.A259T
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KCNV2

NM_133497.4:p.A259T

Associated Papers

Novel and Previously Known Mutations of the KCNV2 Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children.

Alsalloum A et al.

Journal of Clinical Medicine, 2024

Natural history and biomarkers of KCNV2-associated retinopathy.

Sakti DH et al.

Clinical & Experimental Ophthalmology, 2024

Generation of two human induced pluripotent stem cell lines (ABi001-A and ABi002-A) from cone dystrophy with supernormal rod response patients caused by KCNV2 mutation.

Alsalloum A et al.

Stem Cell Research, 2023

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.

Georgiou M et al.

American Journal of Ophthalmology, 2021

33309813 (PubMed )
Supplement: mmc1.pdf
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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."