Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.V382M
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GCM2

NM_004752.4:p.V382M

Associated Papers

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

Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single-center study.

Song A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

Clinical and genetic analysis of atypical parathyroid adenoma compared with parathyroid carcinoma and benign lesions in a Chinese cohort.

Chen Y et al.

Frontiers in Endocrinology, 2023

GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.

Vincze S et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.

Canaff L et al.

European Journal of Endocrinology, 2022

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

García-Castaño A et al.

Scientific Reports, 2021

Germline GCM2 Mutation Screening in Chinese Primary Hyperparathyroidism Patients.

Song A et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2020

New Concepts About Familial Isolated Hyperparathyroidism.

Marx SJ

The Journal of Clinical Endocrinology and Metabolism, 2019

Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas.

Riccardi A et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Molecular genetic insights into sporadic primary hyperparathyroidism.

Brewer K et al.

Endocrine-related Cancer, 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

MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.

Arnold A

Transactions of the American Clinical and Climatological Association, 2016

Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.

D'Agruma L et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.

Mannstadt M et al.

The Journal of Endocrinology, 2011

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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."