Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.E93*
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SGCD

NM_000337.6:p.E93*

Associated Papers

A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.

Chen J et al.

Plos One, 2015

A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.

Kärkkäinen S et al.

Journal of Molecular Medicine (berlin, Germany), 2003

A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.

Dinçer P et al.

Neuromuscular Disorders : Nmd, 2000

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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."