Associated Papers
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
35626323 (PubMed )
Supplement: diagnostics-12-01169-s001.zip › diagnostics-1660539-supplementary.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
TJP2 hepatobiliary disorders: Novel variants and clinical diversity.
Zhang J et al.
Human Mutation, 2020
Mutations in TJP2 cause progressive cholestatic liver disease.
Sambrotta M et al.
Nature Genetics, 2014
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