Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.L189V
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DYSF

NM_003494.4:p.L189V

Associated Papers

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Wang L et al.

Orphanet Journal of Rare Diseases, 2018

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

Izumi R et al.

Neurology. Genetics, 2015

Identification of splicing defects caused by mutations in the dysferlin gene.

Kergourlay V et al.

Human Mutation, 2014

Analysis of the DYSF mutational spectrum in a large cohort of patients.

Krahn M et al.

Human Mutation, 2009

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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."