Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.R4041*
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SYNE1

NM_182961.4:p.R4041*

Associated Papers

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Huang X et al.

Cerebellum (london, England), 2025

Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population.

Peng Y et al.

Frontiers in Neurology, 2018

30619065 (PubMed )
Supplement: Data_Sheet_1.PDF

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Baumann M et al.

European Journal of Human Genetics : Ejhg, 2017

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

Synofzik M 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."