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Article

Phenotypic variability of R117H-CFTR expression within monozygotic twins.

Paediatric respiratory reviews - 1 Aug 2016

Waller Michael D, Simmonds Nicholas J

Abstract excerpt

Whilst cystic fibrosis is a monogenic condition, variation in phenotype exists for the same CFTR genotype, which is influenced by multiple genetic and non-genetic (environmental) factors. The R117H-CFTR mutation has variability directly relating to in cis poly-thymidine alleles, producing a differing spectrum of disease. This paper provides evidence of extreme phenotype variability - including fertility status -...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27364092
DOI: 10.1016/j.prrv.2016.06.009

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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