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[Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2024

Yang Ruiqiong, Hui Ling, Zhang Chuan, Zhang Qinghua, Wang Yupei, Hao Shengju

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a patient with autosomal dominant retinitis pigmentosa (RP). METHODS: A male patient with RP treated at Gansu Provincial Maternal and Child Health Care Hospital in September 2019 was selected as the study subject. Clinical data was collected. Peripheral blood samples of the patient and his parents were subjected to whole exome sequencing (WES). Candidate variant was...

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Identifiers

PMID: 38565512
DOI: 10.3760/cma.j.cn511374-20230316-00138

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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