Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism.
Lior TolkinVanessa KleinMeir FrankelGheona AltarescuRachel BeeriGabriel MunterPublished in: Journal of the Endocrine Society (2023)
Our results suggest that in AJ patients with sporadic, single-gland PHPT, the likelihood of the tested variant is low and genetic testing should be limited to those with familial PHPT or multiglandular disease.