Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.R118H
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EMD

NM_000117.3:p.R118H

Associated Papers

Optimization of CFTR gating through the evolution of its extracellular loops.

Simon MA et al.

The Journal of General Physiology, 2023

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

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

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

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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."