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

Exceptional responses to PARP inhibitors in patients with metastatic breast cancer in oncologic crisis.

Cheng JM et al.

Breast Cancer Research and Treatment, 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

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.

Gama MTD et al.

Cerebellum (london, England), 2019

Multimodal neuroimaging analysis in patients with SYNE1 Ataxia.

Gama MTD et al.

Journal of the Neurological Sciences, 2018

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."