Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.Q253H
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DYSF

NM_001130987.2:p.Q253H

Associated Papers

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

Nashi S et al.

Neurogenetics, 2023

Magnetic resonance imaging pattern variability in dysferlinopathy.

Bardakov SN et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2021

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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."