Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.G370insFs
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KCNV2

NM_133497.4:p.G370insFs

Associated Papers

Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene.

Alsalloum A et al.

Stem Cell Research, 2024

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

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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."