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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCOF1

Variant:p.I14_Y15insFs

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TCOF1

NM_001371623.1:p.I14_Y15insFs

hg38:chr5:150357788 C>CG

Associated Papers

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Teber OA et al.

European Journal of Human Genetics : Ejhg, 2004

15340364 (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."