Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.A4856T
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RYR1

NM_000540.3:p.A4856T

Associated Papers

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Estévez-Arias B et al.

European Journal of Human Genetics : Ejhg, 2025

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.

Estévez-Arias B et al.

Journal of Neuromuscular Diseases, 2024

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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."