Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.R1242S
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CACNA1S

NM_000069.3:p.R1242S

Associated Papers

A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.

Zhou W et al.

Bmc Pediatrics, 2023

Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.

Kubota T et al.

Disease Models & Mechanisms, 2023

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.

Yuan JH et al.

Frontiers in Neurology, 2023

The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.

Wang Q et al.

Channels (austin, Tex.), 2021

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