Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.Q2001*
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DYSF

NM_001130987.2:p.Q2001*

Associated Papers

Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family.

Baghshomali S et al.

International Journal of Genomics, 2025

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

Jin SQ et al.

Chinese Medical Journal, 2016

Novel diagnostic features of dysferlinopathies.

Rosales XQ et al.

Muscle & Nerve, 2010

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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."