Article

Novel compound heterozygous OBSCN variants in Chinese children with congenital pulmonary airway malformation

2023-06-08

Abstract excerpt

The etiology of congenital pulmonary airway malformation (CPAM) has not been well described. In this study, whole-exome sequencing (WES) technology was used to sequence 9 CPAM families to screen the pathogenic genes and their mutations for CPAM. Sanger sequencing was performed for verify the functions of these mutations. We found compound heterozygous mutations in OBSCN gene in two patients with CPAM: one with p.G...

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Literature Corpus work: e475fc55-316e-5bd1-837c-61c3e0254afa
DOI: 10.21203/rs.3.rs-2969410/v1

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