Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.W53*
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TCOF1

NM_001371623.1:p.W53*

Associated Papers

Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.

Pan Z et al.

Molecular Genetics & Genomic Medicine, 2021

Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome.

Li X et al.

Acta Oto-laryngologica, 2019

Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.

Chen Y et al.

Molecular Genetics and Genomics : Mgg, 2018

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."