COPA syndrome caused by a novel p.Arg227Cys COPA gene variant

ConclusionThe present identification and characterization of a novel mutation expands the genotypic spectra of the COPA syndrome and provide reference data to guide future clinical diagnosis and treatment of COPA syndrome.

Source: Molecular Genetics & Genomic Medicine - October 26, 2023 Category: Genetics & Stem Cells Authors: Yue Zheng, Yue Du, Yubin Wu, Fuwei Li, Weiyue Gu, Chengguang Zhao Tags: ORIGINAL ARTICLE Source Type: research