Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant.

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Title: Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant.
Authors: Cotrina-Vinagre, Francisco Javier1 (AUTHOR), Rodríguez-García, María Elena1,2 (AUTHOR), Del Pozo-Filíu, Lucía1 (AUTHOR), Quijada-Fraile, Pilar3 (AUTHOR), Martínez-Azorín, Francisco1,2 (AUTHOR) fmartinez@h12o.es
Source: Journal of Genetics. Dec2024, Vol. 103 Issue 2, p1-7. 7p.
Database: Academic Search Ultimate
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  Data: Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant.
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  Data: <searchLink fieldCode="AR" term="%22Cotrina-Vinagre%2C+Francisco+Javier%22">Cotrina-Vinagre, Francisco Javier</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rodríguez-García%2C+María+Elena%22">Rodríguez-García, María Elena</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Del+Pozo-Filíu%2C+Lucía%22">Del Pozo-Filíu, Lucía</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Quijada-Fraile%2C+Pilar%22">Quijada-Fraile, Pilar</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Martínez-Azorín%2C+Francisco%22">Martínez-Azorín, Francisco</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> fmartinez@h12o.es</i>
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+Genetics%22">Journal of Genetics</searchLink>. Dec2024, Vol. 103 Issue 2, p1-7. 7p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=178807199
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1007/s12041-024-01476-8
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      – Code: eng
        Text: English
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        PageCount: 7
        StartPage: 1
    Titles:
      – TitleFull: Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant.
        Type: main
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      – PersonEntity:
          Name:
            NameFull: Cotrina-Vinagre, Francisco Javier
      – PersonEntity:
          Name:
            NameFull: Rodríguez-García, María Elena
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          Name:
            NameFull: Del Pozo-Filíu, Lucía
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            NameFull: Quijada-Fraile, Pilar
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            NameFull: Martínez-Azorín, Francisco
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          Dates:
            – D: 01
              M: 12
              Text: Dec2024
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-print
              Value: 00221333
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              Value: 103
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              Value: 2
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            – TitleFull: Journal of Genetics
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