Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.M4881I
Back to variants list

RYR1

NM_000540.3:p.M4881I

Associated Papers

RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

Samões R et al.

Journal of Neuromuscular Diseases, 2017

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

Oliveira J et al.

Journal of Human Genetics, 2016

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."