Varaico: Literature-Extracted Genetic Variants

Gene:PUM1
Variant:p.R1139W
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PUM1

NM_001020658.2:p.R1139W

Associated Papers

A Review of Spinocerebellar Ataxias in Taiwan.

Lee CJ et al.

Acta Neurologica Taiwanica, 2025

Determining the effects of loss of function mutations in human cell lines.

de Prisco N et al.

Star Protocols, 2022

Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene.

Lee W et al.

Star Protocols, 2022

Human Pumilio proteins directly bind the CCR4-NOT deadenylase complex to regulate the transcriptome.

Enwerem III et al.

Rna (new York, N.y.), 2021

Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.

Lai KL et al.

Parkinsonism & Related Disorders, 2019

Post-transcriptional Regulatory Functions of Mammalian Pumilio Proteins.

Goldstrohm AC et al.

Trends in Genetics : Tig, 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA et al.

Cell, 2018

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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."