Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.K5392_V5393Splc
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SYNE1

NM_033071.5:p.K5392_V5393Splc

Associated Papers

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Huang X et al.

Cerebellum (london, England), 2025

Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.

Vilela J et al.

Biomedicines, 2023

38001974 (PubMed )
Supplement: biomedicines-11-02971-s001.zip › Supplementary_Table_S2.xlsx › S2b

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.

Arias M et al.

Neurologia, 2022

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.

Arias M et al.

Neurologia, 2022

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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."