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Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism.

Lior TolkinVanessa KleinMeir FrankelGheona AltarescuRachel BeeriGabriel Munter
Published 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.
Keyphrases
  • late onset
  • early onset
  • genome wide
  • copy number
  • amyotrophic lateral sclerosis
  • genome wide identification
  • gene expression
  • dna methylation