Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1F
Variant:p.Q1348*
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CACNA1F

NM_001256789.3:p.Q1348*

Associated Papers

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

Calcium channelopathies: voltage-gated calcium channels.

Adams PJ et al.

Sub-cellular Biochemistry, 2007

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Strom TM et al.

Nature Genetics, 1998

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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."