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Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.

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Title: Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.
Authors: Meili F; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada., Wei WJ; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada., Sin WC; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada., Meyers WM; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada., Dascalu I; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada., Callaghan DB; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada., Rogic S; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T1Z4, Canada., Pavlidis P; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T1Z4, Canada., Haas K; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada. Electronic address: kurt.haas@ubc.ca.
Source: American journal of human genetics [Am J Hum Genet] 2021 Jan 07; Vol. 108 (1), pp. 148-162. Date of Electronic Publication: 2020 Dec 11.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.
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  Data: <searchLink fieldCode="AU" term="%22Meili+F%22">Meili F</searchLink>; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada.<br /><searchLink fieldCode="AU" term="%22Wei+WJ%22">Wei WJ</searchLink>; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada.<br /><searchLink fieldCode="AU" term="%22Sin+WC%22">Sin WC</searchLink>; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada.<br /><searchLink fieldCode="AU" term="%22Meyers+WM%22">Meyers WM</searchLink>; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada.<br /><searchLink fieldCode="AU" term="%22Dascalu+I%22">Dascalu I</searchLink>; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada.<br /><searchLink fieldCode="AU" term="%22Callaghan+DB%22">Callaghan DB</searchLink>; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada.<br /><searchLink fieldCode="AU" term="%22Rogic+S%22">Rogic S</searchLink>; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T1Z4, Canada.<br /><searchLink fieldCode="AU" term="%22Pavlidis+P%22">Pavlidis P</searchLink>; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T1Z4, Canada.<br /><searchLink fieldCode="AU" term="%22Haas+K%22">Haas K</searchLink>; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada. Electronic address: kurt.haas@ubc.ca.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2021 Jan 07; Vol. 108 (1), pp. 148-162. <i>Date of Electronic Publication: </i>2020 Dec 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.ajhg.2020.11.011
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        Text: English
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              Text: 2021 Jan 07
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