Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.I818N
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MYH7

NM_000257.4:p.I818N

Associated Papers

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9

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

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

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

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.

Hoedemaekers YM et al.

Circulation. Cardiovascular Genetics, 2010

20530761 (PubMed )
Supplement: 903898_supplemental_material.pdf
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