Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1F
Variant:p.W349*
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CACNA1F

NM_001256789.3:p.W349*

Associated Papers

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.

Zaslavsky K et al.

Investigative Ophthalmology & Visual Science, 2025

41342616 (PubMed )
Supplement: iovs-66-15-19_s002.xlsx › SuppTable2

Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.

Leahy KE et al.

Genes, 2021

Sensing through Non-Sensing Ocular Ion Channels.

Kabra M et al.

International Journal of Molecular Sciences, 2020

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Zeitz C et al.

Human Mutation, 2019

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Zeitz C et al.

Progress in Retinal and Eye Research, 2015

Nightblindness-associated transient tonic downgaze (NATTD) in infant boys with chin-up head posture.

Simonsz HJ et al.

Strabismus, 0

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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."