Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.S921L
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DYSF

NM_003494.4:p.S921L

Associated Papers

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Cipriani V et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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

Nashi S et al.

Neurogenetics, 2023

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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