Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.W5556*
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SYNE1

NM_182961.4:p.W5556*

Associated Papers

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Huang X et al.

Cerebellum (london, England), 2025

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

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.

Gama MTD et al.

Cerebellum (london, England), 2019

Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease.

Pons R et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

Gama MT et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

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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."