Varaico: Literature-Extracted Genetic Variants

Gene:LDB3
Variant:p.G54S
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LDB3

NM_007078.3:p.G54S

Associated Papers

Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Chan W et al.

Eclinicalmedicine, 2022

35747179 (PubMed )
Supplement: mmc1.pdf

Case Report: Novel LIM domain-binding protein 3 (LDB3) mutations associated with hypertrophic cardiomyopathy family.

Zheng J et al.

Frontiers in Pediatrics, 2022

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.

Bang ML

Journal of Cellular Physiology, 2017

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

Combination of genetic screening and molecular dynamics as a useful tool for identification of disease-related mutations: ZASP PDZ domain G54S mutation case.

Fratev F et al.

Journal of Chemical Information and Modeling, 2014

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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."