Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.N366S
Back to variants list

ANO5

NM_213599.3:p.N366S

Associated Papers

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.

de Bruyn A et al.

Brain : a Journal of Neurology, 2023

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Sarkozy A et al.

Human Mutation, 2013

Muscle MRI findings in limb girdle muscular dystrophy type 2L.

Sarkozy A et al.

Neuromuscular Disorders : Nmd, 2012

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."