Varaico: Literature-Extracted Genetic Variants

Gene:ANO10
Variant:p.L384fs
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ANO10

NM_018075.5:p.L384fs

Associated Papers

ANO10 Function in Health and Disease.

Chrysanthou A et al.

Cerebellum (london, England), 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

Cellular defects by deletion of ANO10 are due to deregulated local calcium signaling.

Wanitchakool P et al.

Cellular Signalling, 2017

A Coding Variant of ANO10, Affecting Volume Regulation of Macrophages, Is Associated with Borrelia Seropositivity.

Hammer C et al.

Molecular Medicine (cambridge, Mass.), 2015

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

Balreira A et al.

Journal of Neurology, 2014

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.

Chamova T et al.

Journal of Neurology, 2012

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

Vermeer S et al.

American Journal of Human Genetics, 2010

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