Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.S333insFs
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GLI3

NM_000168.6:p.S333insFs

Associated Papers

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Baas M et al.

Journal of Medical Genetics, 2021

New insights into genotype-phenotype correlation for GLI3 mutations.

Démurger F et al.

European Journal of Human Genetics : Ejhg, 2015

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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."