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Paper Details

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Am J Hum Genet
57
2022
16p13, ADPKD, ALG9, Autosomal dominant polycystic kidney disease, DNAJB11, GANAB, IFT140, IFT140 LoF, IFT140 LoF variants, IFT140 pathogenic variants, IFT140 variants, LoF variants, PKD, PKD1, PKD1 variants, PKD2, SRTD9, bi, ciliary-associated disease, ciliopathy, cystic kidney disease, end stage kidney disease, enlarged kidneys, intraflagellar transport-complex A, kidney insufficiency, liver cysts, short-rib thoracic dysplasia, syndromic ciliopathies, syndromic ciliopathy
Author NameAffiliation
Michal MrugUniversity of Alabama, USA The Department of Veterans Affairs Medical Center
John A SayerTranslational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne Hospitals NHS Foundation Trust, and NIHR Newcastle Biomedical Research Centre
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