Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.R17L
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MYH6

NM_002471.4:p.R17L

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

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

Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma.

Gao J et al.

Frontiers in Oncology, 2021

33996539 (PubMed )
Supplement: DataSheet_8.xlsx › Table_S4

Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.

Richard P et al.

Clinical Genetics, 2019

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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."