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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCOF1

Variant:p.R667fs

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TCOF1

NM_001371623.1:p.R667fs

hg38:chr5:150376187 CGG>N

Associated Papers

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

Pan Z et al.

Molecular Genetics & Genomic Medicine, 2021

33332773 (PubMed )

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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."