Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.V8387L
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SYNE1

NM_182961.4:p.V8387L

Associated Papers

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

De Silva S et al.

Biochemical Society Transactions, 2023

Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population.

Peng Y et al.

Frontiers in Neurology, 2018

30619065 (PubMed )
Supplement: Data_Sheet_1.PDF

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

Zhou C et al.

Human Molecular Genetics, 2017

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Baumann M et al.

European Journal of Human Genetics : Ejhg, 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."