Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.R1039W
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DYSF

NM_003494.4:p.R1039W

Associated Papers

Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait.

Chawla T et al.

Annals of Indian Academy of Neurology, 2025

Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.

Nashi S et al.

Neurogenetics, 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

Differential diagnosis of vacuolar myopathies in the NGS era.

Mair D et al.

Brain Pathology (zurich, Switzerland), 2020

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

Jin SQ et al.

Chinese Medical Journal, 2016

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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."