Varaico: Literature-Extracted Genetic Variants

Gene:MIB1
Variant:p.V943F
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MIB1

NM_020774.4:p.V943F

Associated Papers

Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.

van der Wilt CN et al.

European Heart Journal Open, 2026

Left Ventricular Noncompaction Cardiomyopathy in Children: A Focus on Genetic and Molecular Mechanisms.

Lehman MB et al.

Reviews in Cardiovascular Medicine, 2025

Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.

Perez SM et al.

Journal of Developmental Biology, 2025

Cardiac electrical abnormalities in a mouse model of left ventricular non-compaction cardiomyopathy.

Fernandes VS et al.

Plos One, 2025

Intricate MIB1-NOTCH-GATA6 Interactions in Cardiac Valvular and Septal Development.

Piñeiro-Sabarís R et al.

Journal of Cardiovascular Development and Disease, 2024

The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype.

Walsh R

Journal of Cardiovascular Translational Research, 2023

Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.

Tessler I et al.

Jama Cardiology, 2023

A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.

Siguero-Álvarez M et al.

Circulation, 2023

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

Molecular and cellular basis of embryonic cardiac chamber maturation.

Dong Y et al.

Seminars in Cell & Developmental Biology, 2021

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

Genetics of Cardiac Developmental Disorders: Cardiomyocyte Proliferation and Growth and Relevance to Heart Failure.

Wilsbacher L et al.

Annual Review of Pathology, 2016

The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

Abbasi Y et al.

Molecular Genetics & Genomic Medicine, 2016

Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.

Nagueh SF et al.

Jacc. Cardiovascular Imaging, 2015

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.

Luxán G et al.

Nature Medicine, 2013

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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."