Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R156W
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RYR1

NM_000540.3:p.R156W

Associated Papers

A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.

Baker EK et al.

American Journal of Medical Genetics. Part A, 2023

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

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.

Hočevar K et al.

Frontiers in Pharmacology, 2019

30930780 (PubMed )
Supplement: Table_5.xlsx › Sheet1
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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."