Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.E2157K
Back to variants list

RYR1

NM_000540.3:p.E2157K

Associated Papers

Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.

Sarkozy A et al.

Neurology, 2023

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M et al.

Acta Neuropathologica Communications, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."