Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.D166G
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RYR1

NM_000540.3:p.D166G

Associated Papers

Defective ryanodine receptor N-terminus inter-subunit interaction is a common mechanism in neuromuscular and cardiac disorders.

Zhang Y et al.

Frontiers in Physiology, 2022

Identification of an amino-terminus determinant critical for ryanodine receptor/Ca2+ release channel function.

Seidel M et al.

Cardiovascular Research, 2021

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Ibarra M CA et al.

Anesthesiology, 2006

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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."