Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.N8406K
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SYNE1

NM_182961.4:p.N8406K

Associated Papers

Unraveling the nexus of nesprin in dilated cardiomyopathy: From molecular insights to therapeutic prospects.

Qin Q et al.

Life Sciences, 2024

Nesprin-1: novel regulator of striated muscle nuclear positioning and mechanotransduction.

De Silva S et al.

Biochemical Society Transactions, 2023

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 › ONM_proteins

Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.

Zhou C et al.

Human Molecular Genetics, 2017

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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."