Varaico: Literature-Extracted Genetic Variants

Gene:APTX
Variant:p.Q181_V182Splc
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APTX

NM_001195248.2:p.Q181_V182Splc

Associated Papers

A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia.

Satolli S et al.

Movement Disorders Clinical Practice, 2024

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

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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."