Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.R547*
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ANO5

NM_213599.3:p.R547*

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

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Savarese M et al.

Neuromuscular Disorders : Nmd, 2015

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

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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."