Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.V2461E
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RYR1

NM_000540.3:p.V2461E

Associated Papers

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Lawal TA et al.

Orphanet Journal of Rare Diseases, 2020

FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes.

Avila G et al.

The Journal of Biological Chemistry, 2003

FKBP12 binding modulates ryanodine receptor channel gating.

Gaburjakova M et al.

The Journal of Biological Chemistry, 2001

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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."