Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans. [electronic resource]
Producer: 20210428Description: 2067-2079 p. digitalISSN:- 1527-3350
- Animals
- Cholestasis, Intrahepatic -- genetics
- Ciliopathies
- Diagnosis, Differential
- Hedgehog Proteins
- Humans
- Infant, Newborn
- Infant, Newborn, Diseases -- genetics
- Intracellular Signaling Peptides and Proteins -- genetics
- Mice
- Microtubule-Associated Proteins -- genetics
- Mutation
- Protein Transport -- genetics
- Severity of Illness Index
- Tetratricopeptide Repeat -- genetics
- Exome Sequencing -- methods
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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