Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
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
Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
Pang J et al.
American Journal of Human Genetics, 2010
Mutations in HPSE2 cause urofacial syndrome.
Daly SB et al.
American Journal of Human Genetics, 2010
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