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[Application of whole exome sequencing technology in the diagnosis of hereditary eye diseases].

Zhonghua yi xue za zhi - 9 Jul 2024

Zhang L, Liu C, Chen S C, Xu C M

Abstract excerpt

Objective: To evaluate the application of whole exome sequencing (WES) in the diagnosis of hereditary eye diseases. Methods: A total of 24 patients who came to the Obstetrics and Gynecology Hospital of Fudan University for reproductive genetic counseling from December 2020 to December 2023 with the main complaint of congenital eye disorders were included in this study. All cases had no known infections or...

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Identifiers

PMID: 38978368
DOI: 10.3760/cma.j.cn112137-20231220-01429

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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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