Varaico: Literature-Extracted Genetic Variants

Gene:HPSE2
Variant:p.N489fs
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HPSE2

NM_021828.5:p.N489fs

Associated Papers

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

Urinary tract effects of HPSE2 mutations.

Stuart HM et al.

Journal of the American Society of Nephrology : Jasn, 2015

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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."