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Article

[Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene].

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

Zhao Ganye, Zhao Xuechao, Liu Li'na, Wang Conghui, Li Qianqian, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic etiology and differential diagnosis for a patient with jaundice. METHODS: Clinical data of the patient and his parents were collected. Genes associated with metabolic liver diseases were subjected to high-throughput sequencing. The pathogenicity of the candidate variants was predicted by using bioinformatics software. RESULTS: High-throughput sequencing revealed that the proband...

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PMID: 36082568
DOI: 10.3760/cma.j.cn511374-20210530-00458

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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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