Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.D6fs
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EMD

NM_000117.3:p.D6fs

Associated Papers

The desmoglein 2 interactome in primary neonatal cardiomyocytes.

Li Y et al.

Journal of Cell Science, 2026

41641743 (PubMed )
Supplement: joces-139-264213-TableS1.xlsx › Sheet1

Spic regulates one-carbon metabolism and histone methylation in ground-state pluripotency.

Mirzadeh Azad F et al.

Science Advances, 2023

37595034 (PubMed )
Supplement: sciadv.adg7997_data_s1_to_s4.zip › adg7997_Data_S2.xlsx › 2iLd3_vs_WT

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

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

TRF1 averts chromatin remodelling, recombination and replication dependent-break induced replication at mouse telomeres.

Porreca RM et al.

Elife, 2020

31934863 (PubMed )
Supplement: elife-49817-fig1-data2.xlsx › Figure_1D

A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture.

Pancheri E et al.

Clinical Neurology and Neurosurgery, 2019

REX1 is the critical target of RNF12 in imprinted X chromosome inactivation in mice.

Gontan C et al.

Nature Communications, 2018

30420655 (PubMed )
Supplement: 41467_2018_7060_MOESM4_ESM.xlsx › Table_Exp5_7

Studying mechanisms of cAMP and cyclic nucleotide phosphodiesterase signaling in Leydig cell function with phosphoproteomics.

Golkowski M et al.

Cellular Signalling, 2016

26643407 (PubMed )
Supplement: 1-s2.0-S089865681530005X-mmc3.xlsx › Sheet1
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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."