Associated Papers
Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.
Khabou B et al.
Journal of Human Genetics, 2025
Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling.
Lindholm ME et al.
Frontiers in Cardiovascular Medicine, 2025
40791945 (PubMed )
Supplement: Datasheet3.xls › Cardiome
Human iPSC-derived hepatocyte system models cholestasis with tight junction protein 2 deficiency.
Li CZ et al.
Jhep Reports : Innovation in Hepatology, 2022
Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.
Lipiński P et al.
Frontiers in Pediatrics, 2020
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