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[Clinical features and genetic testing of a child with hepatic failure syndrome type 2].

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

Jiang Tao, Ouyang Wenxian, Tan Yanfang, Tang Lian, Zhang Hui, Li Shuangjie

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with infantile liver failure syndrome type 2 (ILFS type 2). METHODS: Clinical features of the child were analyzed. Next generation sequencing was also carried out for him. RESULTS: The child was found to harbor compound heterozygous variants of the NBAS gene, which included a novel nonsense c.2746A>T (p.R916X, 1456) variant in exon 24 and a missense c.3596G>A...

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Identifiers

PMID: 35076915
DOI: 10.3760/cma.j.cn511374-20200718-00526

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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