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A novel JAG1 frameshift variant causing Alagille syndrome with incomplete penetrance

Yang Yang1, Hao Wang2

  • 1Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, Hangzhou, Zhejiang, China.

Clinical Biochemistry
|February 13, 2022
PubMed
Abstract

Keywords:
Alagille syndromeJAG1Prenatal diagnosisWhole exome sequencing

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