Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.P253_F254insT
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EMD

NM_000117.3:p.P253_F254insT

Associated Papers

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.

Bulmer L et al.

European Journal of Human Genetics : Ejhg, 2025

40065010 (PubMed )
Supplement: 41431_2025_1827_MOESM1_ESM.pdf

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › INM_proteins

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy.

Dai X et al.

Case Reports in Genetics, 2020

A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy.

Zhou J et al.

Brain and Behavior, 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."