Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.R203H
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EMD

NM_000117.3:p.R203H

Associated Papers

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.

Dharmaraj T et al.

Frontiers in Cell and Developmental Biology, 2019

A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.

Yokoyama R et al.

Heart and Vessels, 2018

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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."