Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.N315D
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GCM2

NM_004752.4:p.N315D

Associated Papers

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

García-Castaño A et al.

Scientific Reports, 2021

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

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

Coppin L et al.

European Journal of Endocrinology, 2020

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Guan B et al.

American Journal of Human Genetics, 2016

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."