Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.K37_I38del1
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EMD

NM_000117.3:p.K37_I38del1

Associated Papers

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

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

Importance of genetic testing in unexplained cardiac arrest.

Grondin S et al.

European Heart Journal, 2022

35352813 (PubMed )
Supplement: ehac145_supplementary_data.zip › CASPER_WES228_supplement_tables_-_R1.xlsx › Supp._Table_5

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )
Supplement: MUS-61-436-s001.docx

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

Zhou J et al.

Brain and Behavior, 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

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.

Boudellioua I et al.

Scientific Reports, 2018

X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation.

Karst ML et al.

Journal of Cardiovascular Electrophysiology, 2008

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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."