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Unveiling a novel pathogenic SKI variant in a child with Shprintzen Goldberg syndrome.

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Title: Unveiling a novel pathogenic SKI variant in a child with Shprintzen Goldberg syndrome.
Authors: Mittal, Payal1 (AUTHOR) payalmittal41298@gmail.com, Singh, Ritika1 (AUTHOR) ritika16singh@gmail.com, Bhalla, Kapil1 (AUTHOR) drkapilbhalla@gmail.com
Source: Journal of Rare Diseases. 4/23/2026, Vol. 5 Issue 1, p1-4. 4p.
Database: Academic Search Ultimate
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Header DbId: asn
DbLabel: Academic Search Ultimate
An: 193198527
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Label: Title
  Group: Ti
  Data: Unveiling a novel pathogenic SKI variant in a child with Shprintzen Goldberg syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Mittal%2C+Payal%22">Mittal, Payal</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> payalmittal41298@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Singh%2C+Ritika%22">Singh, Ritika</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> ritika16singh@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Bhalla%2C+Kapil%22">Bhalla, Kapil</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> drkapilbhalla@gmail.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+Rare+Diseases%22">Journal of Rare Diseases</searchLink>. 4/23/2026, Vol. 5 Issue 1, p1-4. 4p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=193198527
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1007/s44162-026-00172-8
    Languages:
      – Code: eng
        Text: English
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        PageCount: 4
        StartPage: 1
    Titles:
      – TitleFull: Unveiling a novel pathogenic SKI variant in a child with Shprintzen Goldberg syndrome.
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          Name:
            NameFull: Mittal, Payal
      – PersonEntity:
          Name:
            NameFull: Singh, Ritika
      – PersonEntity:
          Name:
            NameFull: Bhalla, Kapil
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            – D: 23
              M: 04
              Text: 4/23/2026
              Type: published
              Y: 2026
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              Value: 5
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            – TitleFull: Journal of Rare Diseases
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