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[Characterization of 19 novel gene mutation sites associated with autosome-dominant polycystic kidney disease].

Zhonghua nei ke za zhi - 1 Sept 2024

Yang J L, Peng S Q, Wei Z Y, Jiang J N, Wang B, Wang F M, Xie X T, Xu T, Zhang X L

Abstract excerpt

By analyzing the of genetic testing data of patients with renal polycystic kidney disease and their relatives, this study aims to identify unreported novel gene mutation sites associated with autosomal dominant polycystic kidney disease (ADPKD). Structural prediction software was employed to investigate protein structural changes before and after mutations, explore genotype-phenotype correlations, and enrich the...

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Identifiers

PMID: 39183159
DOI: 10.3760/cma.j.cn112138-20231228-00412

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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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