Varaico: Literature-Extracted Genetic Variants

Gene:ANO10
Variant:p.L173delFs
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ANO10

NM_018075.5:p.L173delFs

Associated Papers

Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.

Norata D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

ANO10 Function in Health and Disease.

Chrysanthou A et al.

Cerebellum (london, England), 2023

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

Nanetti L et al.

Journal of Neurology, 2019

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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."