Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1F
Variant:p.F1056insFs
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CACNA1F

NM_001256789.3:p.F1056insFs

Associated Papers

Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report.

Wyględowska-Promieńska D et al.

International Journal of Molecular Sciences, 2024

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

Stockner T et al.

Biochimica Et Biophysica Acta, 2013

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

Boycott KM et al.

Human Genetics, 2001

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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."