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[Analysis of C2ORF71 gene variant in a Chinese patient with retinitis pigmentosa].

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

Liu Man, Lu Yilu, Ma Yongxin

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese patient with retinitis pigmentosa (RP). METHODS: Whole exome sequencing (WES) was carried out to screen potential variant in the proband. Candidate variants were determined by taking consideration of clinical phenotype. Sanger sequencing was used to verify the variant in the proband and his parents. RESULTS: The proband was found to harbor compound...

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PMID: 34964967
DOI: 10.3760/cma.j.cn511374-20201223-00902

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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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