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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLI3

Variant:p.V804_S805insAT

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GLI3

NM_000168.6:p.V804_S805insAT

hg38:chr7:41967617 C>CNNNNNN

Associated Papers

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

Wessels K et al.

European Journal of Medical Genetics, 0

20624498 (PubMed )

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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."