Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.E4523fs
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SYNE1

NM_033071.5:p.E4523fs

Associated Papers

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Huang X et al.

Cerebellum (london, England), 2025

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

Mademan I et al.

Brain : a 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."