Varaico: Literature-Extracted Genetic Variants

Gene:OBSCN
Variant:p.D8456Splc
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OBSCN

NM_001386125.1:p.D8456Splc

Associated Papers

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.

Li M et al.

Journal of Translational Medicine, 2021

33941202 (PubMed )
Supplement: 12967_2021_2832_MOESM4_ESM.xlsx › Sheet1

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Unraveling obscurins in heart disease.

Grogan A et al.

Pflugers Archiv : European Journal of Physiology, 2019

Obscurin Variants in Patients With Left Ventricular Noncompaction.

Rowland TJ et al.

Journal of the American College of Cardiology, 2016

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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."