Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.D2482Splc
Back to variants list

RYR1

NM_000540.3:p.D2482Splc

Associated Papers

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.

Harikrishna GV et al.

Journal of Neuromuscular Diseases, 2024

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."