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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.V4927del1

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RYR1

NM_000540.3:p.V4927del1

hg38:chr19:38585072 ATCG>A

Associated Papers

Ryanodine receptor as a new therapeutic target of heart failure and lethal arrhythmia.

Yano M

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

18362417 (PubMed )

Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.

Yano M et al.

Nature Clinical Practice. Cardiovascular Medicine, 2006

16391617 (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."