Homo sapiens treacle ribosome biogenesis factor 1 (TCOF1), transcript - Nucleotide

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The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP). [Sci Rep. 2024]
The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP).
Gil Rosas M, Centola C, Torres M, Mouguelar VS, David AP, Piga EJ, Gomez D, Calcaterra NB, Armas P, Coux G. Sci Rep. 2024 Mar 29; 14(1):7472. Epub 2024 Mar 29.
A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome. [BMC Med Genomics. 2024]
A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.
Sun H, Xu X, Chen B, Wang Y, Lyu J, Guo L, Yuan Y, Ren D. BMC Med Genomics. 2024 Mar 18; 17(1):75. Epub 2024 Mar 18.
[Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].
Jiang N, Liang S, Miao Y, Li S. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Mar 10; 41(3):322-325.

RefSeq alternative splicing
See 93 reference mRNA sequence splice variants for the TCOF1 gene.
RefSeq protein product
See the reference protein sequence for treacle protein isoform h (NP_001358552.1).

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Protein sequence from Nucleotide coding region
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Nucleotide