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. |
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| 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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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddac252 |
