Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.S1000P
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DYSF

NM_003494.4:p.S1000P

Associated Papers

Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family.

Belhassen I et al.

Molecular Biology Reports, 2026

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.

Izumi R et al.

Human Mutation, 2020

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

Dominov JA et al.

Annals of Clinical and Translational Neurology, 2019

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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."