Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.R1543H
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GLI2

NM_001371271.1:p.R1543H

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

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.

Flemming GM et al.

The Journal of Clinical Endocrinology and Metabolism, 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."