Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.G1923Splc
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DYSF

NM_003494.4:p.G1923Splc

Associated Papers

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Gedikbasi A et al.

Frontiers in Genetics, 2023

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.

Blandin G et al.

Human Mutation, 2012

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

Krahn M et al.

Human Mutation, 2009

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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."