Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.W2045*
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DYSF

NM_003494.4:p.W2045*

Associated Papers

Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy.

Arab F et al.

Advanced Biomedical Research, 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

Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.

Izumi R et al.

Neurology. Genetics, 2015

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

Takahashi T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2013

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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."