Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.K1458fs
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TCOF1

NM_001371623.1:p.K1458fs

Associated Papers

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report.

Lamzouri A et al.

Balkan Journal of Medical Genetics : Bjmg, 2023

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

Bowman M et al.

European Journal of Human Genetics : Ejhg, 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."