Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.E1453_K1455delFs
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TCOF1

NM_001135243.2:p.E1453_K1455delFs

Associated Papers

[TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].

Li Y et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2023

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

Masotti C et al.

Bmc Medical Genetics, 2009

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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."