Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.A506T
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RYR1

NM_000540.3:p.A506T

Associated Papers

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.

Invernizzi F et al.

Genes, 2023

37510298 (PubMed )
Supplement: genes-14-01393-s001.zip › Supplementary_tabS1.xlsx › Foglio1

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.
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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."