Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.T587M
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GLI2

NM_005270.5:p.T587M

Associated Papers

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

Bear KA et al.

Journal of Medical Genetics, 2014

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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."