TJP2 hepatobiliary disorders: Novel variants and clinical diversity. [electronic resource]
Producer: 20210722Description: 502-511 p. digitalISSN:- 1098-1004
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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