Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
Human iPSC-derived hepatocyte system models cholestasis with tight junction protein 2 deficiency.
Li CZ et al.
Jhep Reports : Innovation in Hepatology, 2022
35284810 (PubMed )
Supplement: mmc1.pdf
New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report.
Wei CS et al.
World Journal of Gastroenterology, 2020
Mutations in TJP2 cause progressive cholestatic liver disease.
Sambrotta M et al.
Nature Genetics, 2014
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