Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.W30*
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SGCD

NM_000337.6:p.W30*

Associated Papers

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Alonso-Pérez J et al.

Brain : a Journal of Neurology, 2022

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

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.

Tsubata S et al.

The Journal of Clinical Investigation, 2000

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

Dinçer P et al.

Neuromuscular Disorders : Nmd, 2000

Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).

Duggan DJ et al.

Neurogenetics, 1997

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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."