Varaico: Literature-Extracted Genetic Variants

Gene:ANO10
Variant:p.I166fs
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ANO10

NM_018075.5:p.I166fs

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

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

Nanetti L et al.

Journal of Neurology, 2019

'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing.

Yoshida K et al.

Journal of Human Genetics, 2014

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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."