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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNB1

Variant:p.Q174*

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CACNB1

NM_000723.5:p.Q174*

hg38:chr17:39186824 G>A

Associated Papers

Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.

Beam TA et al.

Physiological Genomics, 2017

28011884 (PubMed )

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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."