Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.P253S
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GLI2

NM_001374353.1:p.P253S

Associated Papers

Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.

Corder ML et al.

American Journal of Medical Genetics. Part A, 2022

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

Vishnopolska SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

Role of GLI2 in hypopituitarism phenotype.

Arnhold IJ et al.

Journal of Molecular 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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