Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.D839fs
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GLI2

NM_001374353.1:p.D839fs

Associated Papers

Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI.

Aguilar-Riera C et al.

Bmc Endocrine Disorders, 2025

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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."