Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.R528L
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CACNA1S

NM_000069.3:p.R528L

Associated Papers

CACNA1S-associated triadopathy presenting with myalgia, muscle weakness, and asymptomatic hyperCKemia.

Luo S et al.

Therapeutic Advances in Neurological Disorders, 2025

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

Anandan C et al.

European Journal of Neurology, 2018

Reversible Severe Rhabdomyolysis Associated with Thyrotoxic Hypokalemic Periodic Paralysis.

Sathirapanya P et al.

Case Reports in Neurology, 0

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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."