Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S120_V121delFs
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EMD

NM_000117.3:p.S120_V121delFs

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

The LEM-ESCRT toolkit: Repair and maintenance of the nucleus.

Borah S et al.

Frontiers in Cell and Developmental Biology, 2022

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

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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."