Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.W1042*
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DYSF

NM_003494.4:p.W1042*

Associated Papers

Clinical genome sequencing in patients with suspected rare genetic disease in Peru.

Bazalar-Montoya J et al.

Npj Genomic Medicine, 2024

39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants

Analysis of the DYSF mutational spectrum in a large cohort of patients.

Krahn M et al.

Human Mutation, 2009

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

Nguyen K et al.

Human Mutation, 2005

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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."