Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.V526M
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CACNA1S

NM_000069.3:p.V526M

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc5.xlsx › nSMs

Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.

Vivekanandam V et al.

Neuromuscular Disorders : Nmd, 2023

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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."