Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.G947D
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GLI2

NM_001374353.1:p.G947D

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

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.

Gregory LC et al.

Clinical Endocrinology, 2015

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

França MM et al.

Clinical Endocrinology, 2013

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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."