Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R249*
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MYH7

NM_000257.4:p.R249*

Associated Papers

Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional Study.

Hutchcraft ML et al.

Jco Precision Oncology, 2024

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

Walsh R

Journal of Cardiovascular Translational Research, 2023

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

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S8_PAH_A
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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."