Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHumansMaleFemaleGenetic CounselingPedigree
[Pathogenicity analysis and genetic counseling for a hemizygous c.1042-10G>C variant of SLC9A7 gene].
Jingyuan Wang, Jia Huang, Hongjie Zhu, Lingxiao Zhou, Heng Yang, Wenjie Yang, Shuai Chen, Hongyan Liu
Published: 202510.3760/cma.j.cn511374-20250324-00176
Abstract
OBJECTIVE: To evaluate the clinical significance of a hemizygous c.1042-10G>C variant of the SLC9A7 gene NM_001257291.2) previously identified in individuals with neurodevelopmental disorders, and to provide an evidence-based guidance for prenatal ge…
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