Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.V183M
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GLI2

NM_001374353.1:p.V183M

Associated Papers

Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.

Babu D et al.

Clinical Endocrinology, 2019

Role of GLI2 in hypopituitarism phenotype.

Arnhold IJ et al.

Journal of Molecular Endocrinology, 2015

Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.

Paulo SS et al.

Clinical Endocrinology, 2015

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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."