Varaico: Literature-Extracted Genetic Variants

Gene:UBAP1
Variant:p.L171*
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UBAP1

NM_016525.5:p.L171*

Associated Papers

Ubiquitin-Associated Protein 1 (UBAP1) Gene Mutation in a 36-Year-Old Filipino Male With Spastic Paraplegia: A Case Report.

Solijon KKL et al.

Cureus, 2025

Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review.

Zhang C et al.

Frontiers in Neurology, 2022

A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation.

Li P et al.

Frontiers in Genetics, 2022

Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.

Bian X et al.

Plos One, 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."