Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.V139L
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MYH7

NM_000257.4:p.V139L

Associated Papers

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

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Hathaway J et al.

Bmc Cardiovascular Disorders, 2021

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

Mook OR et al.

Journal of Medical Genetics, 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."