Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.Q4477*
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SYNE1

NM_033071.5:p.Q4477*

Associated Papers

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Huang X et al.

Cerebellum (london, England), 2025

SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment.

Swan L et al.

Clinics and Practice, 2018

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Nethisinghe S et al.

Frontiers in Cellular Neuroscience, 2018

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.

Wiethoff S et al.

Journal of Neurology, 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."