Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.A131P
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SGCD

NM_000337.6:p.A131P

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

S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.

Rutschow D et al.

European Journal of Human Genetics : Ejhg, 2014

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.

Soheili T et al.

Human Mutation, 2012

Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

Bauer R et al.

European Journal of Human Genetics : Ejhg, 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."