Article

Diagnostic yield and novel candidate genes by exome sequencing in 166 children with intrahepatic cholestasis

2023-02-24

Abstract excerpt

<title>Abstract</title> <p><bold>Background & Aims:</bold> Cholestatic liver disease is a leading referral to pediatric liver transplant centers. Inherited disorders are the second most frequent cause of cholestasis in the first months of life. <bold>Methods:</bold> We retrospectively characterized the genotype and phenotype of 166 participants with intrahepatic cholestasis，and re-analyzed phenotype and WES data...

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Literature Corpus work: a00bfcf7-8141-53b4-a1c3-cf5bb8a9212f
DOI: 10.21203/rs.3.rs-2581467/v1

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