treacle protein isoform X32 [Homo sapiens]

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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.
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome. [Mol Genet Genomic Med. 2024]
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
Zhuang DY, Sun SN, Hu ZJ, Xie M, Zhang YX, Yan LL, Pan JW, Li HB. Mol Genet Genomic Med. 2024 Mar; 12(3):e2405.

RefSeq genomic sequence
See the genomic reference sequence for the TCOF1 gene (NG_011341.1).
RefSeq mRNA
See reference mRNA sequence for the TCOF1 gene (XM_054353371.1).

Homo sapiens partial XPGC gene, exon 2
Homo sapiens partial XPGC gene, exon 2
gi|495255|emb|X71342.1|

Nucleotide

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Protein