Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.W999R
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DYSF

NM_003494.4:p.W999R

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

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.

Park J et al.

Genes, 2023

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

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Chakravorty S et al.

Frontiers in Neurology, 2020

Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B.

Okubo M et al.

Journal of the Neurological Sciences, 2018

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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."