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A novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl.

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Title: A novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl.
Authors: Kamran TE; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan., Faisal S; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan., Khalid R; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan., Haider Z; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan., Inam R; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan., Siddiqui Y; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan., Iqbal M; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan., Khan SA; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
Source: SAGE open medical case reports [SAGE Open Med Case Rep] 2024 Jul 26; Vol. 12, pp. 2050313X241266813. Date of Electronic Publication: 2024 Jul 26 (Print Publication: 2024).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: SAGE Publications Country of Publication: England NLM ID: 101638686 Publication Model: eCollection Cited Medium: Print ISSN: 2050-313X (Print) Linking ISSN: 2050313X NLM ISO Abbreviation: SAGE Open Med Case Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl.
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  Data: <searchLink fieldCode="AU" term="%22Kamran+TE%22">Kamran TE</searchLink>; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.<br /><searchLink fieldCode="AU" term="%22Faisal+S%22">Faisal S</searchLink>; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khalid+R%22">Khalid R</searchLink>; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.<br /><searchLink fieldCode="AU" term="%22Haider+Z%22">Haider Z</searchLink>; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.<br /><searchLink fieldCode="AU" term="%22Inam+R%22">Inam R</searchLink>; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.<br /><searchLink fieldCode="AU" term="%22Siddiqui+Y%22">Siddiqui Y</searchLink>; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.<br /><searchLink fieldCode="AU" term="%22Iqbal+M%22">Iqbal M</searchLink>; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khan+SA%22">Khan SA</searchLink>; Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
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  Data: <searchLink fieldCode="JN" term="%22101638686%22">SAGE open medical case reports</searchLink> [SAGE Open Med Case Rep] 2024 Jul 26; Vol. 12, pp. 2050313X241266813. <i>Date of Electronic Publication: </i>2024 Jul 26 (<i>Print Publication: </i>2024).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22SAGE+Publications%22">SAGE Publications </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101638686 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2050-313X (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222050313X%22">2050313X </searchLink><i>NLM ISO Abbreviation: </i>SAGE Open Med Case Rep <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1177/2050313X241266813
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        Text: English
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            – D: 26
              M: 07
              Text: 2024 Jul 26
              Type: published
              Y: 2024
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