Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.Q330L
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GCM2

NM_004752.4:p.Q330L

Associated Papers

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

Iacobone M et al.

Updates in Surgery, 2025

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

García-Castaño A et al.

Scientific Reports, 2021

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?

Coppin L et al.

European Journal of Endocrinology, 2020

Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study.

Maret A et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."