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A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.

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Title: A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.
Authors: Bai, Jinli1 (AUTHOR), Li, Ping1 (AUTHOR), Jiao, Hui2 (AUTHOR), Jin, Yuwei1 (AUTHOR), Wang, Hong1 (AUTHOR), Jiang, Qinglin1 (AUTHOR), Song, Fang1 (AUTHOR), Peng, Xiaoyin2 (AUTHOR) pengxy74@126.com, Qu, Yujin1 (AUTHOR) hurry_qu@sina.com
Source: Italian Journal of Pediatrics. 7/8/2025, Vol. 51 Issue 1, p1-10. 10p.
Database: Academic Search Ultimate
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An: 186463536
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  Label: Title
  Group: Ti
  Data: A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.
– Name: Author
  Label: Authors
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  Data: <searchLink fieldCode="AR" term="%22Bai%2C+Jinli%22">Bai, Jinli</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Ping%22">Li, Ping</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jiao%2C+Hui%22">Jiao, Hui</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jin%2C+Yuwei%22">Jin, Yuwei</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Hong%22">Wang, Hong</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jiang%2C+Qinglin%22">Jiang, Qinglin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Song%2C+Fang%22">Song, Fang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Peng%2C+Xiaoyin%22">Peng, Xiaoyin</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> pengxy74@126.com</i><br /><searchLink fieldCode="AR" term="%22Qu%2C+Yujin%22">Qu, Yujin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> hurry_qu@sina.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Italian+Journal+of+Pediatrics%22">Italian Journal of Pediatrics</searchLink>. 7/8/2025, Vol. 51 Issue 1, p1-10. 10p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=186463536
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1186/s13052-025-02058-9
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      – Code: eng
        Text: English
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        PageCount: 10
        StartPage: 1
    Titles:
      – TitleFull: A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.
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            NameFull: Bai, Jinli
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            NameFull: Li, Ping
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            NameFull: Jiao, Hui
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            NameFull: Jin, Yuwei
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            NameFull: Wang, Hong
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            NameFull: Jiang, Qinglin
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            NameFull: Song, Fang
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            NameFull: Peng, Xiaoyin
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            NameFull: Qu, Yujin
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            – D: 08
              M: 07
              Text: 7/8/2025
              Type: published
              Y: 2025
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              Value: 51
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              Value: 1
          Titles:
            – TitleFull: Italian Journal of Pediatrics
              Type: main
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