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Article

G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Critical reviews in clinical laboratory sciences - 1 Aug 2024

Thompson Miles D, Percy Maire E, Cole David E C, Bichet Daniel G, Hauser Alexander S, Gorvin Caroline M

Abstract excerpt

Genetic variations in the genes encoding G protein-coupled receptors (GPCRs) can disrupt receptor structure and function, which can result in human genetic diseases. Disease-causing mutations have been reported in at least 55 GPCRs for more than 66 monogenic diseases in humans. The spectrum of pathogenic and likely pathogenic variants includes loss of function variants that decrease receptor signaling on one...

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PMID: 38497103
DOI: 10.1080/10408363.2023.2286606

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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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