Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.

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Title: Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.
Authors: Fan, Feiyang1 (AUTHOR), Chen, Ying1 (AUTHOR), Zhang, Tianyu1,2 (AUTHOR), Ma, Jing1,3,4,5 (AUTHOR) maj14@fudan.edu.cn
Source: Molecular Genetics & Genomic Medicine. Sep2026, Vol. 14 Issue 9, p1-9. 9p.
Database: Academic Search Ultimate
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  Data: Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Fan%2C+Feiyang%22">Fan, Feiyang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chen%2C+Ying%22">Chen, Ying</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhang%2C+Tianyu%22">Zhang, Tianyu</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ma%2C+Jing%22">Ma, Jing</searchLink><relatesTo>1,3,4,5</relatesTo> (AUTHOR)<i> maj14@fudan.edu.cn</i>
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  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. Sep2026, Vol. 14 Issue 9, p1-9. 9p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=197283706
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1002/mgg3.70297
    Languages:
      – Code: eng
        Text: English
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        PageCount: 9
        StartPage: 1
    Titles:
      – TitleFull: Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.
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          Name:
            NameFull: Fan, Feiyang
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          Name:
            NameFull: Chen, Ying
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          Name:
            NameFull: Zhang, Tianyu
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            NameFull: Ma, Jing
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            – D: 01
              M: 09
              Text: Sep2026
              Type: published
              Y: 2026
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              Value: 14
            – Type: issue
              Value: 9
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            – TitleFull: Molecular Genetics & Genomic Medicine
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