Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.D1069N
Back to variants list

RYR1

NM_000540.3:p.D1069N

Associated Papers

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Zaharieva IT et al.

Brain : a Journal of Neurology, 2016

Diagnostics in skeletal muscle channelopathies.

Vicino A et al.

Expert Review of Molecular Diagnostics, 0

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."