treacle protein isoform X12 [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_054353351.1).
RefSeq protein isoforms
See 93 reference sequence protein isoforms for the TCOF1 gene.

PREDICTED: Homo sapiens treacle ribosome biogenesis factor 1 (TCOF1), transcript...
PREDICTED: Homo sapiens treacle ribosome biogenesis factor 1 (TCOF1), transcript variant X8, mRNA
gi|2462604088|ref|XM_054353347.1|

Nucleotide
zf55a11.s1 Soares retina N2b4HR Homo sapiens cDNA clone IMAGE:380828 3', mRNA se...
zf55a11.s1 Soares retina N2b4HR Homo sapiens cDNA clone IMAGE:380828 3', mRNA sequence
gi|1548420|gnl|dbEST|681857|gb|AA05 1|

Nucleotide
yx66d05.s1 Soares melanocyte 2NbHM Homo sapiens cDNA clone IMAGE:266697 3', mRNA...
yx66d05.s1 Soares melanocyte 2NbHM Homo sapiens cDNA clone IMAGE:266697 3', mRNA sequence
gi|1137047|gnl|dbEST|421144|gb|N228

Nucleotide
treacle protein isoform X32 [Homo sapiens]
treacle protein isoform X32 [Homo sapiens]
gi|2217357153|ref|XP_047273623.1|

Protein
PREDICTED: Homo sapiens treacle ribosome biogenesis factor 1 (TCOF1), transcript...
PREDICTED: Homo sapiens treacle ribosome biogenesis factor 1 (TCOF1), transcript variant X12, mRNA
gi|2462604096|ref|XM_054353351.1|

Nucleotide

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Protein