Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.E249G
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EMD

NM_000117.3:p.E249G

Associated Papers

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

Martinez-Barrios E et al.

International Journal of Legal Medicine, 2023

36693943 (PubMed )
Supplement: 414_2023_2951_MOESM1_ESM.pdf

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

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."