Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.E1444D
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GLI2

NM_001374353.1:p.E1444D

Associated Papers

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."