Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R2126Q
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RYR1

NM_000540.3:p.R2126Q

Associated Papers

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Fusto A et al.

Acta Neuropathologica Communications, 2022

Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.

Wang HJ et al.

Nature Communications, 2020

33037202 (PubMed )
Supplement: 41467_2020_18865_MOESM3_ESM.xlsx › Supplementary_Table_1

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Klingler W et al.

Orphanet Journal of Rare Diseases, 2014

Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.

Kraeva N et al.

Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2011

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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."