Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.Q1498fs
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SYNE1

NM_033071.5:p.Q1498fs

Associated Papers

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Huang X et al.

Cerebellum (london, England), 2025

Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family.

Qian N et al.

Frontiers in Genetics, 2022

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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