Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D1
Variant:p.H992Y
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CACNA2D1

NM_000722.4:p.H992Y

Associated Papers

Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility.

Sambuughin N et al.

Molecular Genetics & Genomic Medicine, 2014

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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."