Varaico: Literature-Extracted Genetic Variants

Gene:HPSE2
Variant:p.N543I
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HPSE2

NM_021828.5:p.N543I

Associated Papers

Tumor- and host-derived heparanase-2 (Hpa2) attenuates tumorigenicity: role of Hpa2 in macrophage polarization and BRD7 nuclear localization.

Soboh S et al.

Cell Death & Disease, 2024

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

Beaman GM et al.

Frontiers in Genetics, 2022

Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy.

Roberts NA et al.

Advances in Experimental Medicine and Biology, 2020

Urinary tract effects of HPSE2 mutations.

Stuart HM et al.

Journal of the American Society of Nephrology : Jasn, 2015

Clinical and genetic characteristics for the Urofacial Syndrome (UFS).

Tu Y et al.

International Journal of Clinical and Experimental Pathology, 2014

First HPSE2 missense mutation in urofacial syndrome.

Mahmood S et al.

Clinical Genetics, 2012

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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."