Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S176F
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EMD

NM_000117.3:p.S176F

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

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

31024910 (PubMed )
Supplement: Table_2.XLSX › EMD

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.

Campuzano O et al.

Frontiers in Genetics, 2019

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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."