Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Y105*
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EMD

NM_000117.3:p.Y105*

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: a Report of a Large Family with 11 Affected Individuals.

Ahmadifard A et al.

International Journal of Molecular and Cellular Medicine, 2016

Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.

Meinke P et al.

Plos Genetics, 2014

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Muntoni F et al.

Brain : a Journal of Neurology, 2006

Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.

Muntoni F et al.

Neuromuscular Disorders : Nmd, 1998

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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."