Varaico: Literature-Extracted Genetic Variants

Gene:ANO10
Variant:p.Y203*
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ANO10

NM_018075.5:p.Y203*

Associated Papers

ANO10 Function in Health and Disease.

Chrysanthou A et al.

Cerebellum (london, England), 2023

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.

Massey S et al.

Neurology. Genetics, 2023

Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.

Aida I et al.

Internal Medicine (tokyo, Japan), 2022

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family.

Yang SL et al.

Journal of Clinical Neurology (seoul, Korea), 2020

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

Nanetti L et al.

Journal of Neurology, 2019

Autosomal recessive spinocerebellar ataxias in Japan.

Tanaka F et al.

Rinsho Shinkeigaku = Clinical Neurology, 2016

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

Balreira A et al.

Journal of Neurology, 2014

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.

Maruyama H et al.

Clinical Genetics, 2014

[Clinical features of autosomal dominant spinocerebellar ataxias genetically unclassified into any known triplet-repeat diseases].

Aoki K et al.

Rinsho Shinkeigaku = Clinical Neurology, 2001

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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."