Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.Q392*
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GCM2

NM_004752.4:p.Q392*

Associated Papers

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

Three Siblings With Familial Isolated Hypoparathyroidism: A Diagnostic Journey From CASR to Novel GCM2 Variant.

Thambundit A et al.

Jcem Case Reports, 2024

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