Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.I2162I
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RYR1

NM_000540.3:p.I2162I

Associated Papers

The genetic evolution of acral melanoma.

Wang M et al.

Nature Communications, 2024

39034322 (PubMed )
Supplement: 41467_2024_50233_MOESM5_ESM.xlsx › Supplementary_Data_2

The genetic evolution of acral melanoma.

Wang M et al.

Biorxiv : the Preprint Server for Biology, 2023

37904969 (PubMed )
Supplement: media-2.xlsx › Sheet1

Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.

Curran JL et al.

British Journal of Anaesthesia, 1999

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

Manning BM et al.

American Journal of Human Genetics, 1998

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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."