Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.D246insFs
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GCM2

NM_004752.4:p.D246insFs

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

Glial Cell Missing Homolog 2 Mutation Causing Severe Hypoparathyroidism: Report of Two Cases With Novel Mutations.

Singhania P et al.

Journal of the Endocrine Society, 2022

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