Varaico: Literature-Extracted Genetic Variants

Gene:IFT140
Variant:p.R307*
Back to variants list

IFT140

NM_014714.4:p.R307*

Associated Papers

Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.

Cristalli CP et al.

Genes, 2025

The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease.

Righini M et al.

Journal of Nephrology, 2025

Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype.

Dordoni C et al.

Clinical Kidney Journal, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."