Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.G248R
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EPHA3

NM_005233.6:p.G248R

Associated Papers

Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.

Sato K et al.

Anesthesiology, 2010

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.

Robinson RL et al.

Human Mutation, 2002

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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."