Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.Y54*
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KCNV2

NM_133497.4:p.Y54*

Associated Papers

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Heutinck PAT et al.

Investigative Ophthalmology & Visual Science, 2024

39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1

[Pathognomonic ERG predicting the genetic diagnosis: Cone dystrophy with supernormal rod response].

Jarrett C et al.

Journal Francais D'ophtalmologie, 2021

Sensing through Non-Sensing Ocular Ion Channels.

Kabra M et al.

International Journal of Molecular Sciences, 2020

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

Littink KW et al.

Investigative Ophthalmology & Visual Science, 2010

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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."