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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCOF1

Variant:p.Q723*

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TCOF1

NM_001371623.1:p.Q723*

hg38:chr5:150376447 C>T

Associated Papers

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

Bowman M et al.

European Journal of Human Genetics : Ejhg, 2012

22317976 (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."