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[Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2022

Bai Ying, Sun Yue, Wu Jing, Liu Ning, Jiao Zhihui, Li Qianqian, Zhao Kaihui, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child featuring congenital insensitivity to pain (CIP). METHODS: Targeted capture and next generation sequencing (NGS) was carried out for the proband. Suspected pathogenic variants were confirmed by Sanger sequencing of the proband and his parents. RESULTS: The proband was found to harbor compound heterozygous variants of SCN9A gene, namely c.1598delA (p.N533Ifs*31)...

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PMID: 35446973
DOI: 10.3760/cma.j.cn511374-20201225-00912

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