Varaico: Literature-Extracted Genetic Variants

Gene:PNPT1
Variant:p.R690Splc
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PNPT1

NM_033109.5:p.R690Splc

Associated Papers

Unveiling Spinocerebellar Ataxia 25: First Case Report of a Brazilian Family.

Tenorio RB et al.

Cerebellum (london, England), 2025

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.

Haddad S et al.

European Journal of Neurology, 2025

Unravelling Heterogeneity: A Rare PNPT1 Variant in Childhood-Onset Spinocerebellar Ataxia with Sensorineural Hearing Loss.

Nallapaneni LM et al.

Cerebellum (london, England), 2024

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

Barbier M et al.

Annals of Neurology, 2022

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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."