Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › IPK1_het
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
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Scientific Reports, 2017
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