Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.P386L
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GLI2

NM_001374353.1:p.P386L

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

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

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