Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1F
Variant:p.S360F
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CACNA1F

NM_001256789.3:p.S360F

Associated Papers

Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.

Schaare D et al.

Genes, 2023

36833327 (PubMed )
Supplement: genes-14-00400-s001.zip › Supplementary_Document_S6_S7.xlsx › Supplementary_Document_6

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.

Mahmood U et al.

Genes, 2021

Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.

Birtel J et al.

Genes, 2020

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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."