High Population Frequency of GNRHR p.Q106R in Malta: An Evaluation of Fertility and Hormone Profiles in Heterozygotes.
Clayton John AxiakAdrian PlevenRitienne AttardFrancesca Borg CarbottJean-Paul EbejerIan BrincatKaren CassarMark GruppettaJosanne VassalloStephanie Bezzina WettingerRosienne FarrugiaPublished in: Journal of the Endocrine Society (2023)
p.Q106R is likely a founder variant due to its overrepresentation and prevalence in the island population of Malta.
Keyphrases