Associated Papers
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.
Clark D et al.
American Journal of Medical Genetics. Part A, 2024
Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.
Danish E et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2024
The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.
Ali H et al.
Clinical Kidney Journal, 2023
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
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