Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.R788_D790delFs
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GLI2

NM_001374353.1:p.R788_D790delFs

Associated Papers

A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance.

Elward C et al.

Clinical Case Reports, 2020

Role of GLI2 in hypopituitarism phenotype.

Arnhold IJ et al.

Journal of Molecular Endocrinology, 2015

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

França MM et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."