Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.S487F
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GCM2

NM_004752.4:p.S487F

Associated Papers

A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report.

Onishi A et al.

Frontiers in Endocrinology, 2025

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

García-Castaño A et al.

Scientific Reports, 2021

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