Varaico: Literature-Extracted Genetic Variants

Gene:UBAP1
Variant:p.L121fs
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UBAP1

NM_016525.5:p.L121fs

Associated Papers

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

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.

Bourinaris T et al.

European Journal of Human Genetics : Ejhg, 2020

Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.

Wang J et al.

Neurogenetics, 2020

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA et al.

American Journal of Human Genetics, 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."