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A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis.

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Title: A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis.
Authors: Alblooshi H; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Mustafa N; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Khalam AA; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Bharathan A; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Mohammed E; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Baydoun I; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Tabouni M; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Allam M; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Almansoori M; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Fatima T; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Aljaberi N; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. najla.aljaberi@uaeu.ac.ae.; Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates. najla.aljaberi@uaeu.ac.ae.
Source: Human genomics [Hum Genomics] 2025 Jul 25; Vol. 19 (1), pp. 85. Date of Electronic Publication: 2025 Jul 25.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis.
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  Data: <searchLink fieldCode="AU" term="%22Alblooshi+H%22">Alblooshi H</searchLink>; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Mustafa+N%22">Mustafa N</searchLink>; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Khalam+AA%22">Khalam AA</searchLink>; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Bharathan+A%22">Bharathan A</searchLink>; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Mohammed+E%22">Mohammed E</searchLink>; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Baydoun+I%22">Baydoun I</searchLink>; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Tabouni+M%22">Tabouni M</searchLink>; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Allam+M%22">Allam M</searchLink>; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Almansoori+M%22">Almansoori M</searchLink>; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Fatima+T%22">Fatima T</searchLink>; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Aljaberi+N%22">Aljaberi N</searchLink>; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. najla.aljaberi@uaeu.ac.ae.; Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates. najla.aljaberi@uaeu.ac.ae.
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  Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2025 Jul 25; Vol. 19 (1), pp. 85. <i>Date of Electronic Publication: </i>2025 Jul 25.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE
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