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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D8

Variant:p.L402_L403insFs

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TBC1D8

NM_001330348.2:p.L402_L403insFs

hg38:chr2:101038530 C>CG

Associated Papers

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

Quack I et al.

American Journal of Human Genetics, 1999

10521292 (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."