Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.R667insFs
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TCOF1

NM_001371623.1:p.R667insFs

Associated Papers

Advancing Non-Invasive Prenatal Screening: A Targeted 1069-Gene Panel for Comprehensive Detection of Monogenic Disorders and Copy Number Variations.

Sirica R et al.

Genes, 2025

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

Pan Z et al.

Molecular Genetics & Genomic Medicine, 2021

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."