Varaico: Literature-Extracted Genetic Variants

Gene:ANO10
Variant:p.L535*
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ANO10

NM_018075.5:p.L535*

Associated Papers

ANO10 Function in Health and Disease.

Chrysanthou A et al.

Cerebellum (london, England), 2023

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."