Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.K120fs
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KCNV2

NM_133497.4:p.K120fs

Associated Papers

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

Wissinger B et al.

Human Mutation, 2011

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

Wissinger B et al.

Investigative Ophthalmology & Visual Science, 2008

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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."