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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.S3937L

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RYR1

NM_000540.3:p.S3937L

hg38:chr19:38543563 C>T

Associated Papers

CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.

Lopergolo D et al.

Cells, 2024

39273074 (PubMed )

Supplement: cells-13-01504-s001.zip › Supplementary_Information_7.9.24.pdf

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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."