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Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.

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Title: Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.
Authors: Xu W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Graves A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hegazy L; Center for Clinical Pharmacology, Washington University School of Medicine and University of Health Sciences & Pharmacy, St. Louis, MO, USA., Magyar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Liu Z; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA., Nasiotis E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Samee MAH; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA., Burris T; Genetics Institute, University of Florida, Gainesville, FL, USA., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhang L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Source: Human molecular genetics [Hum Mol Genet] 2023 Mar 06; Vol. 32 (6), pp. 959-970.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Xu+W%22">Xu W</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Graves+A%22">Graves A</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Weisz-Hubshman+M%22">Weisz-Hubshman M</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Hegazy+L%22">Hegazy L</searchLink>; Center for Clinical Pharmacology, Washington University School of Medicine and University of Health Sciences & Pharmacy, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Magyar+C%22">Magyar C</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Liu+Z%22">Liu Z</searchLink>; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Nasiotis+E%22">Nasiotis E</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Samee+MAH%22">Samee MAH</searchLink>; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Burris+T%22">Burris T</searchLink>; Genetics Institute, University of Florida, Gainesville, FL, USA.<br /><searchLink fieldCode="AU" term="%22Lalani+S%22">Lalani S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1093/hmg/ddac252
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              Text: 2023 Mar 06
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