Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.L7747fs
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SYNE1

NM_033071.5:p.L7747fs

Associated Papers

Compound heterozygous mutations in the SYNE1 gene causing atypical juvenile motor neuron disease.

Ginanneschi F et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Huang X et al.

Cerebellum (london, England), 2025

Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.

Duan X et al.

Cerebellum (london, England), 2021

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