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[The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts].

Zhonghua yi xue za zhi - 23 Jul 2024

Duan H K, Bai Y, Xia Y J, Wang L, Kong X D

Abstract excerpt

The data of 57 renal cyst patients who visited the First Affiliated Hospital of Zhengzhou University from January 2023 to March 2024 were retrospectively analyzed. The age of patients ranged from three months to 60 years old, with 31 males and 26 females. The whole exome sequencing (WES) detected pathogenic or suspected pathogenic (P/LP) variants in 48 renal cystic probands, with a detection rate of 84.2%...

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Identifiers

PMID: 39019822
DOI: 10.3760/cma.j.cn112137-20240208-00299

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