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A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family.

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Title: A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family.
Authors: Soosanabadi, Mohsen1 (AUTHOR), Biglari, Sajjad2 (AUTHOR), Bayat, Sahar3 (AUTHOR), Ghorashi, Tahereh4 (AUTHOR), Sohanforooshan Moghaddam, Atefeh5 (AUTHOR), Gholami, Milad3 (AUTHOR) dr.gholami@arakmu.ac.ir
Source: Egyptian Journal of Medical Human Genetics. 4/18/2025, Vol. 26 Issue 1, p1-7. 7p.
Database: Academic Search Ultimate
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DbLabel: Academic Search Ultimate
An: 184607290
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  Data: A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family.
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  Data: <searchLink fieldCode="AR" term="%22Soosanabadi%2C+Mohsen%22">Soosanabadi, Mohsen</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Biglari%2C+Sajjad%22">Biglari, Sajjad</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bayat%2C+Sahar%22">Bayat, Sahar</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ghorashi%2C+Tahereh%22">Ghorashi, Tahereh</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sohanforooshan+Moghaddam%2C+Atefeh%22">Sohanforooshan Moghaddam, Atefeh</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gholami%2C+Milad%22">Gholami, Milad</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> dr.gholami@arakmu.ac.ir</i>
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  Data: <searchLink fieldCode="JN" term="%22Egyptian+Journal+of+Medical+Human+Genetics%22">Egyptian Journal of Medical Human Genetics</searchLink>. 4/18/2025, Vol. 26 Issue 1, p1-7. 7p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=184607290
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1186/s43042-025-00652-4
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      – Code: eng
        Text: English
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        PageCount: 7
        StartPage: 1
    Titles:
      – TitleFull: A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family.
        Type: main
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      – PersonEntity:
          Name:
            NameFull: Soosanabadi, Mohsen
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          Name:
            NameFull: Biglari, Sajjad
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          Name:
            NameFull: Bayat, Sahar
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            NameFull: Ghorashi, Tahereh
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            NameFull: Sohanforooshan Moghaddam, Atefeh
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            NameFull: Gholami, Milad
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          Dates:
            – D: 18
              M: 04
              Text: 4/18/2025
              Type: published
              Y: 2025
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              Value: 11108630
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              Value: 26
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            – TitleFull: Egyptian Journal of Medical Human Genetics
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