Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.T1412_S1413delFs
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GLI3

NM_000168.6:p.T1412_S1413delFs

Associated Papers

De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities.

Siafa L et al.

Pediatric Neurology, 2022

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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."