Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.W930C
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DYSF

NM_003494.4:p.W930C

Associated Papers

Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.

Rufibach L et al.

Journal of Personalized Medicine, 2023

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

Krahn M et al.

Human Mutation, 2009

Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.

Therrien C et al.

Journal of the Neurological Sciences, 2006

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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."