Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Y59*
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EMD

NM_000117.3:p.Y59*

Associated Papers

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

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

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

Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.

Le Thanh P et al.

Neuromuscular Disorders : Nmd, 2017

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy.

Meinke P et al.

Neuromuscular Disorders : Nmd, 2015

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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."