Varaico: Literature-Extracted Genetic Variants

Gene:TPX2
Variant:p.P13R
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TPX2

NM_012112.5:p.P13R

Associated Papers

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

Vervoort R et al.

Human Genetics, 1998

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

Vervoort R et al.

American Journal of Human Genetics, 1995

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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."