Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.R8272Q
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SYNE1

NM_182961.4:p.R8272Q

Associated Papers

Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.

Yeh CN et al.

Npj Precision Oncology, 2025

39809865 (PubMed )
Supplement: 41698_2025_802_MOESM1_ESM.pdf

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

Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.

Li M et al.

Journal of Translational Medicine, 2021

33941202 (PubMed )
Supplement: 12967_2021_2832_MOESM4_ESM.xlsx › Sheet1

Nesprin-1/2: roles in nuclear envelope organisation, myogenesis and muscle disease.

Zhou C et al.

Biochemical Society Transactions, 2018

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."