Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.R50*
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ANO5

NM_213599.3:p.R50*

Associated Papers

Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism.

Zhang Z et al.

Communications Biology, 2025

40221599 (PubMed )
Supplement: 42003_2025_7935_MOESM1_ESM.pdf

Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.

Ćuk M et al.

Genes, 2024

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

Dilated cardiomyopathy in patients with mutations in anoctamin 5.

Wahbi K et al.

International Journal of Cardiology, 2013

Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent.

Mahajan S et al.

Neurology India, 0

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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."