Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.G1944Splc
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DYSF

NM_001130978.2:p.G1944Splc

Associated Papers

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

Santos R et al.

Journal of Human Genetics, 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."