Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.L379Q
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GCM2

NM_004752.4:p.L379Q

Associated Papers

Spatial transcriptomic analysis of mouse parathyroid gland cells expressing an activating variant of Gcm2.

Bolel P et al.

Jbmr Plus, 2025

Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism.

Iacobone M et al.

Updates in Surgery, 2025

A Knock-In Mouse Model of the Gcm2 Variant p.Y392S Develops Normal Parathyroid Glands.

Parekh VI et al.

Journal of the Endocrine Society, 2023

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

Tolkin L et al.

Journal of the Endocrine Society, 2023

GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.

Vincze S et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Five patients with disorders of calcium metabolism presented with GCM2 gene variants.

García-Castaño A et al.

Scientific Reports, 2021

Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas.

Riccardi A et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism.

Guan B et al.

Journal of the Endocrine Society, 2017

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Guan B et al.

American Journal of Human Genetics, 2016

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