Article

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

2020-12-04

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To evaluate the risk and spectrum of phenotypes associated in individuals with one or two of the CFTR T5 haplotype variants (TG11T5, TG12T5 and TG13T5) in the absence of the R117H variant. <h4>Methods</h4> Individuals who received testing with CFTR NGS results between 2014 and 2019 through Invitae at ordering provider discretion were included. TG-T repeats were detected using a c...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: da1cefa1-3879-5b3f-8be9-dd483ee1c1d0
DOI: 10.1101/2020.12.02.20242719

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTRDOI 10.1101/2020.12.02.20242719Read

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

Developing a primer for communicating about penetrance, expressivity, and genotype-phenotype correlation of R117H and the poly-T tract in CFTR.Semantic proximity Read

Accurate and Automated Genotyping of the CFTR Poly-T/TG Tract with CFTR-TIPS.Semantic proximity Read

Diagnosis of atypical CF: a case-report to reflect.Semantic proximity Read

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.Semantic proximity Read

The novel CFTR haplotype E583G/F508del in CFTR-related disorder.Semantic proximity Read

Recurrent Sinopulmonary Infections and Poor Growth in a Child Homozygous for the CFTR 5T-TG12 VariantSemantic proximity Read

Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype.Semantic proximity Read

Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.Semantic proximity Read

Diversity of<i>CFTR</i>variants across ancestries characterized using 454,727 UK biobank whole exome sequencesSemantic proximity Read

Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.Semantic proximity Read

Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.Semantic proximity Read