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Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort.

Scientific reports - 11 Feb 2021

Gong Kunjing, Xia Min, Wang Yaqin, Wang Na, Liu Ying, Zhang Victor Wei, Cheng Hong, Chen Yuqing

Abstract excerpt

Genes of UMOD, HNF1B, MUC1, REN and SEC61A1 were reported to be associated with autosomal dominant tubulointerstitial kidney disease (ADTKD). 48 probands and their family members (N = 27) were enrolled in this genetic screening study. A combination of methods was employed for comprehensive molecular analysis of both copy number variations (CNVs) and single nucleotide variants (SNVs). 35 probands were followed for...

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Identifiers

PMID: 33574344
DOI: 10.1038/s41598-020-79331-w
PMCID: PMC7878898

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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