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Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.

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Title: Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.
Authors: Jiang, Zhuoyuan1 (AUTHOR), Mao, Ke1 (AUTHOR), Wang, Bingqing2 (AUTHOR), Zhu, Hao1 (AUTHOR), Liu, Jiqiang1 (AUTHOR), Lang, Ruirui1 (AUTHOR), Xiao, Baichuan1 (AUTHOR), Shan, Hailin1 (AUTHOR), Chen, Qi2 (AUTHOR), Li, Ying3 (AUTHOR), Zhao, Shouqin3 (AUTHOR), Zhang, Qingguo2 (AUTHOR), Liu, Huisheng4,5 (AUTHOR) liu_huisheng@grmh-gdl.cn, Zhang, Yong-Biao1,6 (AUTHOR) zhangyongbiao@buaa.edu.cn
Source: Orphanet Journal of Rare Diseases. 2/7/2025, Vol. 20 Issue 1, p1-12. 12p.
Database: Academic Search Ultimate
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DbLabel: Academic Search Ultimate
An: 182882693
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  Data: Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.
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  Data: <searchLink fieldCode="AR" term="%22Jiang%2C+Zhuoyuan%22">Jiang, Zhuoyuan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mao%2C+Ke%22">Mao, Ke</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Bingqing%22">Wang, Bingqing</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhu%2C+Hao%22">Zhu, Hao</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Liu%2C+Jiqiang%22">Liu, Jiqiang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lang%2C+Ruirui%22">Lang, Ruirui</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Xiao%2C+Baichuan%22">Xiao, Baichuan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shan%2C+Hailin%22">Shan, Hailin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chen%2C+Qi%22">Chen, Qi</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Ying%22">Li, Ying</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhao%2C+Shouqin%22">Zhao, Shouqin</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhang%2C+Qingguo%22">Zhang, Qingguo</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Liu%2C+Huisheng%22">Liu, Huisheng</searchLink><relatesTo>4,5</relatesTo> (AUTHOR)<i> liu_huisheng@grmh-gdl.cn</i><br /><searchLink fieldCode="AR" term="%22Zhang%2C+Yong-Biao%22">Zhang, Yong-Biao</searchLink><relatesTo>1,6</relatesTo> (AUTHOR)<i> zhangyongbiao@buaa.edu.cn</i>
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 2/7/2025, Vol. 20 Issue 1, p1-12. 12p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=182882693
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      – Type: doi
        Value: 10.1186/s13023-024-03508-z
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      – Code: eng
        Text: English
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        PageCount: 12
        StartPage: 1
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      – TitleFull: Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.
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            NameFull: Jiang, Zhuoyuan
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            NameFull: Mao, Ke
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            – D: 07
              M: 02
              Text: 2/7/2025
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              Y: 2025
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