Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.E5112D
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SYNE1

NM_182961.4:p.E5112D

Associated Papers

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Huang X et al.

Cerebellum (london, England), 2025

Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review.

Kuo CY et al.

Journal of Movement Disorders, 2023

37096302 (PubMed )
Supplement: jmd-22105-Supplementary-Table-1.pdf

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

Liquid Biopsy in Gastric Cancer: Analysis of Somatic Cancer Tissue Mutations in Plasma Cell-Free DNA for Predicting Disease State and Patient Survival.

Varkalaite G et al.

Clinical and Translational Gastroenterology, 2021

34644276 (PubMed )
Supplement: ct9-12-e00403-s006.pdf

Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.

Kim JS et al.

Parkinsonism & Related Disorders, 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."