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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1S

Variant:p.R1229_A1233delFs

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CACNA1S

NM_000069.3:p.R1229_A1233delFs

hg38:chr1:201053554 AGGCGCTGGAGATGC>A

Associated Papers

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

Fridriksdottir R et al.

European Journal of Human Genetics : Ejhg, 2021

34462577 (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."