Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTR
Keith Nykamp, Rebecca Truty, Darlene Riethmaier, Julia Wilkinson, Sara L. Bristow, Sienna J. Aguilar, Dana Neitzel, Nicole E. Faulkner, Stephanie Kahan, Swaroop Aradhya
The paper assesses the phenotypic risks of CFTR T5 haplotype variants in individuals without the R117H variant, finding associations with disease severity and penetrance.
Human Mutation · Jul 1, 2021Peer-reviewedGenetic & Genomic Medicine