Zhang, Jing
TJP2 hepatobiliary disorders: Novel variants and clinical diversity. [electronic resource]
- Human mutation 02 2020
- 502-511 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.23947 doi
Age of Onset
Alleles
Amino Acid Substitution
Biopsy
Cholestasis, Intrahepatic--diagnosis
Computational Biology--methods
Female
Genetic Predisposition to Disease
Genetic Variation
Humans
Infant
Infant, Newborn
Male
Mutation
Pedigree
RNA Splicing
Exome Sequencing
Zonula Occludens-2 Protein--genetics