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PSMC1 variant causes a novel neurological syndrome.

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Title: PSMC1 variant causes a novel neurological syndrome.
Authors: Aharoni S; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Proskorovski-Ohayon R; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Krishnan RK; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Yogev Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Wormser O; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Hadar N; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Bakhrat A; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Alshafee I; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Gombosh M; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Agam N; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Gradstein L; Department of Ophthalmology, Soroka University Medical Center and Clalit Health Services, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Shorer Z; Pediatric Neurology Unit, Division of Pediatrics, Soroka Medical Center, Beer Sheva, Israel., Zarivach R; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Eskin-Schwartz M; Genetics Institute, Soroka Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel., Abdu U; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.; Genetics Institute, Soroka Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Source: Clinical genetics [Clin Genet] 2022 Oct; Vol. 102 (4), pp. 324-332. Date of Electronic Publication: 2022 Aug 03.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: PSMC1 variant causes a novel neurological syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Aharoni+S%22">Aharoni S</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Proskorovski-Ohayon+R%22">Proskorovski-Ohayon R</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Krishnan+RK%22">Krishnan RK</searchLink>; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Yogev+Y%22">Yogev Y</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Wormser+O%22">Wormser O</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Hadar+N%22">Hadar N</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Bakhrat+A%22">Bakhrat A</searchLink>; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Alshafee+I%22">Alshafee I</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Gombosh+M%22">Gombosh M</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Agam+N%22">Agam N</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Gradstein+L%22">Gradstein L</searchLink>; Department of Ophthalmology, Soroka University Medical Center and Clalit Health Services, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Shorer+Z%22">Shorer Z</searchLink>; Pediatric Neurology Unit, Division of Pediatrics, Soroka Medical Center, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Zarivach+R%22">Zarivach R</searchLink>; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Eskin-Schwartz+M%22">Eskin-Schwartz M</searchLink>; Genetics Institute, Soroka Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Abdu+U%22">Abdu U</searchLink>; Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Birk+OS%22">Birk OS</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.; Genetics Institute, Soroka Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2022 Oct; Vol. 102 (4), pp. 324-332. <i>Date of Electronic Publication: </i>2022 Aug 03.
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