Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.Y416C
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GCM2

NM_004752.4:p.Y416C

Associated Papers

48-Year clinical experience and genetic analysis of pediatric primary hyperparathyroidism from a single center in China.

Chen Y et al.

Journal of Endocrinological Investigation, 2025

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

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

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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."