Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.S717fs
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TCOF1

NM_001371623.1:p.S717fs

Associated Papers

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.

Tooze RS et al.

Genes, 2023

36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.

Bukowska-Olech E et al.

Frontiers in Genetics, 2020

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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."