Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.A715V
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TCOF1

NM_001371623.1:p.A715V

Associated Papers

Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization.

Chen Y et al.

Orphanet Journal of Rare Diseases, 2025

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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."