Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.R97Q
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SGCD

NM_000337.6:p.R97Q

Associated Papers

Examining patient-specific responses to PARP inhibitors in a novel, human induced pluripotent stem cell-based model of breast cancer.

Weddle CJ et al.

Npj Precision Oncology, 2025

40000798 (PubMed )
Supplement: 41698_2025_837_MOESM3_ESM.xlsx › BC3

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S3

Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy.

Asadi M et al.

Advanced Biomedical Research, 2017

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

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

Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy.

Sylvius N et al.

American Journal of Medical Genetics. Part A, 2003

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

Tsubata S et al.

The Journal of Clinical Investigation, 2000

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.

Nigro V et al.

Human Molecular Genetics, 1996

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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."