Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.Y219C
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ANO5

NM_213599.3:p.Y219C

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

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

Juntas Morales R et al.

Genes, 2021

34440373 (PubMed )
Supplement: genes-12-01199-s001.zip › MORALES_et_al.__Supplemental_table_2.pdf

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

Zenagui R et al.

The Journal of Molecular Diagnostics : Jmd, 2018

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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."