Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.E396*
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RYR1

NM_000540.3:p.E396*

Associated Papers

Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.

Kim Y et al.

Human Genetics, 2023

Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population.

Foo CTY et al.

Scientific Reports, 2022

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Clinical detection of deletion structural variants in whole-genome sequences.

Noll AC et al.

Npj Genomic Medicine, 2016

29263817 (PubMed )
Supplement: npjgenmed201626-s7.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."