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Article

p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?

Journal of human genetics - 1 Apr 2014

Martinez Brigitte, Heller Marion, Gaitch Natacha, Hubert Dominique, Burgel Pierre-Regis, Levy Philippe, Girodon Emmanuelle, Bienvenu Thierry

Abstract excerpt

c.224G>A, p.Arg75Gln (R75Q) presumably leads to an amino-acid change from arginine to glutamine in the membrane-spanning domain of the CFTR protein. Initially reported as a benign sequence variation, p.Arg75Gln was shown to be associated with a high risk of pancreatitis, a risk that was strikingly higher when p.Arg75Gln was combined with a SPINK1 variant. In addition, it was shown that p.Arg75Gln alters...

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Source

Identifiers

PMID: 24451227
DOI: 10.1038/jhg.2014.2

Genes

CFTR
SPINK1

Variants

Provenance

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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