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A Newborn with a Pathogenic Variant in ASXL2 Expanding the Phenotype of SHAPNS: a Case Report and Literature Review

Translational Pediatrics(2023)

Cited 2|Views2
Key words
China Neonatal Genomes Project (CNGP),neonate,ASXL2,Shashi-Pena syndrome (SHAPNS),case report
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