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Article

Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.

Genetic testing and molecular biomarkers - 1 Sept 2016

Salinas Danieli Barino, Azen Colleen, Young Suzanne, Keens Thomas G, Kharrazi Martin, Parad Richard B

Abstract excerpt

BACKGROUND: At the cystic fibrosis transmembrane conductance regulator (CFTR) gene (IVS8)-(TG)m(T)n locus, a lower number of thymidines (legacy names 9T vs. 7T vs. 5T) and a higher number of (TG) repeats (TG-11 vs. 12 vs. 13) are associated with decreasing translation of functional CFTR protein in vitro. METHODS: Retrospective cohort study comparing phenotypes of California CF newborn screen-positive children...

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Source

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Identifiers

PMID: 27447098
DOI: 10.1089/gtmb.2016.0102
PMCID: PMC5395019

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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