Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.S701fs
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TCOF1

NM_001371623.1:p.S701fs

Associated Papers

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.

Antal G et al.

International Journal of Molecular Sciences, 2024

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

Pan Z et al.

Molecular Genetics & Genomic Medicine, 2021

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

Chen Y et al.

Molecular Genetics and Genomics : Mgg, 2018

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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."