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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.L4833L

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RYR1

NM_001042723.2:p.L4833L

hg38:chr19:38580370 C>T

Associated Papers

Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.

Hoppe K et al.

Scientific Reports, 2021

33564012 (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."