Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.Y558H
Back to variants list

GLI2

NM_001374353.1:p.Y558H

Associated Papers

De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum.

Goel H et al.

Molecular Genetics & Genomic Medicine, 2025

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

Corder ML et al.

American Journal of Medical Genetics. Part A, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."