Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.Q55*
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TCOF1

NM_001371623.1:p.Q55*

Associated Papers

De novo TCOF1 mutation in Treacher Collins syndrome.

Liu J et al.

International Journal of Pediatric Otorhinolaryngology, 2021

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

Bowman M et al.

European Journal of Human Genetics : Ejhg, 2012

[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene].

Li H et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2012

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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."