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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.F1074I

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RYR1

NM_000540.3:p.F1074I

hg38:chr19:38467651 T>A

Associated Papers

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Tian X et al.

Neurology. Genetics, 2015

27066551 (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."