Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.R71T
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SGCD

NM_000337.6:p.R71T

Associated Papers

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.

Campbell MD et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2016

Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.

Garcia J et al.

Frontiers in Cardiovascular Medicine, 2016

27446933 (PubMed )
Supplement: data_sheet_1.docx

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

δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches.

Blain AM et al.

Skeletal Muscle, 2011

Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all.

Callis TE et al.

Expert Review of Molecular Diagnostics, 2010

Delta-sarcoglycan gene polymorphism frequency in Amerindian and Mestizo populations of Mexico.

Ordoñez-Razo RM et al.

Genetic Testing and Molecular Biomarkers, 2010

Genetics of dilated cardiomyopathy.

Kärkkäinen S et al.

Annals of Medicine, 2007

The canine sarcoglycan delta gene: BAC clone contig assembly, chromosome assignment and interrogation as a candidate gene for dilated cardiomyopathy in Dobermann dogs.

Stabej P et al.

Cytogenetic and Genome Research, 2005

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

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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."