Varaico: Literature-Extracted Genetic Variants

Gene:ANO10
Variant:p.L510R
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ANO10

NM_018075.5:p.L510R

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

The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.

Bushell SR et al.

Nature Communications, 2019

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

Nanetti L et al.

Journal of Neurology, 2019

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

Hammer C et al.

Molecular Medicine (cambridge, Mass.), 2015

Variomics screen identifies the re-entrant loop of the calcium-activated chloride channel ANO1 that facilitates channel activation.

Bill A et al.

The Journal of Biological Chemistry, 2015

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

Balreira A et al.

Journal of Neurology, 2014

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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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."