Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.A26V
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TCOF1

NM_001371623.1:p.A26V

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

Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1.

Fujioka H et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2008

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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."