Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.R900M
Back to variants list

CACNA1S

NM_000069.3:p.R900M

Associated Papers

Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families.

Barrachina-Esteve O et al.

Neuromuscular Disorders : Nmd, 2025

Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis.

Nuzhnyi EP et al.

Frontiers in Neurology, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."