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Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome.

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Title: Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome.
Authors: Nakousi C., Nicole1 (AUTHOR), Nakousi M., Catalina2 (AUTHOR) cnakousim@uft.edu, Perez C., Gabriela3 (AUTHOR), Das, Sofia Priyadarsani (AUTHOR) das.sofia@gmail.com
Source: Case Reports in Genetics. 10/27/2025, Vol. 2025, p1-6. 6p.
Database: Academic Search Ultimate
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  Data: Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Nakousi+C%2E%2C+Nicole%22">Nakousi C., Nicole</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nakousi+M%2E%2C+Catalina%22">Nakousi M., Catalina</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> cnakousim@uft.edu</i><br /><searchLink fieldCode="AR" term="%22Perez+C%2E%2C+Gabriela%22">Perez C., Gabriela</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Das%2C+Sofia+Priyadarsani%22">Das, Sofia Priyadarsani</searchLink> (AUTHOR)<i> das.sofia@gmail.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Case+Reports+in+Genetics%22">Case Reports in Genetics</searchLink>. 10/27/2025, Vol. 2025, p1-6. 6p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188899622
RecordInfo BibRecord:
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        Value: 10.1155/crig/8822406
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      – Code: eng
        Text: English
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        PageCount: 6
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      – TitleFull: Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome.
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            NameFull: Nakousi C., Nicole
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            NameFull: Nakousi M., Catalina
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            NameFull: Perez C., Gabriela
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            NameFull: Das, Sofia Priyadarsani
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            – D: 27
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              Text: 10/27/2025
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              Y: 2025
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              Value: 2025
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