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