Associated Papers
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Somatic_TSG_allVariants_
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.
Holt-Danborg L et al.
Human Molecular Genetics, 2019
Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.
Niederwanger C et al.
European Journal of Medical Research, 2018
HAI-2 stabilizes, inhibits and regulates SEA-cleavage-dependent secretory transport of matriptase.
Nonboe AW et al.
Traffic (copenhagen, Denmark), 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.
Castro-Vega LJ et al.
Nature Communications, 2015
25625332 (PubMed )
Supplement: ncomms7044-s3.xlsx › Supplementary_Data_2
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian P et al.
American Journal of Human Genetics, 2009
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