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Article

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human mutation - 1 Sept 2021

Nykamp Keith, Truty Rebecca, Riethmaier Darlene, Wilkinson Julia, Bristow Sara L, Aguilar Sienna, Neitzel Dana, Faulkner Nicole, Aradhya Swaroop

Abstract excerpt

Biallelic pathogenic variants in CFTR manifest as cystic fibrosis (CF) or other CFTR-related disorders (CFTR-RDs). The 5T allele, causing alternative splicing and reduced protein activity, is modulated by the adjacent TG repeat element, though previous data have been limited to small, selective cohorts. Here, the risk and spectrum of phenotypes associated with the CFTR TG-T5 haplotype variants (TG11T5, TG12T5,...

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Identifiers

PMID: 34196078
DOI: 10.1002/humu.24250
PMCID: PMC9292755

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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