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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLI3

Variant:p.A330_S333Fs

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GLI3

NM_000168.6:p.A330_S333Fs

hg38:chr7:42040069 AGCCACTTG>GGCGCGGC

Associated Papers

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.

Jourdain AS et al.

Human Mutation, 2020

31502745 (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."