Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.F4809L
Back to variants list

RYR1

NM_000540.3:p.F4809L

Associated Papers

Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

Jeong HN et al.

Journal of Clinical Neurology (seoul, Korea), 2018

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

Chae JH et al.

Journal of Medical Genetics, 2015

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."