Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.C905R
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MYH7

NM_000257.4:p.C905R

Associated Papers

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

Hirono K et al.

Journal of the American Heart Association, 2024

39494597 (PubMed )
Supplement: JAH3-13-e035614-s001.pdf

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

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations.

Olivotto I et al.

Cardiovascular Research, 2015

Roadmap to determine the point mutations involved in cardiomyopathy disorder: a Bayesian approach.

Kumar A et al.

Gene, 2013

Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy.

Hoedemaekers YM et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 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."