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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.R1072insFs

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RYR1

NM_000540.3:p.R1072insFs

hg38:chr19:38467645 C>CT

Associated Papers

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Vasli N et al.

Acta Neuropathologica, 2012

22526018 (PubMed )

Supplement: 401_2012_982_MOESM4_ESM.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."