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Genome-wide association study and sequence similarity analysis for unilateral renal agenesis using heterogeneous stock rats undercovers the <i>KIT</i> gene and <i>AHR</i> , <i>ATF3</i> , <i>GATA3</i> , <i>HNF1B</i> , <i>POU2F2</i> , and <i>TFCP2</i> transcription factors as potential candidates to explain incomplete penetrance

2023-09-19

Abstract excerpt

1 Human unilateral renal agenesis is a congenital urinary tract malformation. Affected individuals have only one kidney, which is often an asymptomatic developmental defect. A total of 5,585 male and female HS rats were assessed for unilateral renal agenesis and genotyped for 3’513,321 markers. The R package SAIGEgds was used for the association analysis. The adjusted p-value threshold for the association analysis...

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Literature Corpus work
d7e3f2fc-5309-5ef9-b0a4-ea879297d8ef
DOI
10.1101/2023.09.19.558496
Open publication

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Genome-wide association study and sequence similarity analysis for unilateral renal agenesis using heterogeneous stock rats undercovers the <i>KIT</i> gene and <i>AHR</i> , <i>ATF3</i> , <i>GATA3</i> , <i>HNF1B</i> , <i>POU2F2</i> , and <i>TFCP2</i> transcription factors as potential candidates to explain incomplete penetranceDOI 10.1101/2023.09.19.558496
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