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Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.

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第一作者: Lettie E,Rawlins
第一单位: RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.;Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom.
作者单位: RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.;Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom. [1] Department of Biology, Concordia University, Montreal, Quebec, Canada. [2] RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.;Department of Biological Sciences, International Islamic University, Islamabad, Pakistan. [3] Institute of Genetics and Molecular and Cellular Biology, Inserm, Illkirch, France.;Inserm, University of Bourgogne Franche-Comté, Dijon, France. [4] RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom. [5] Department of Molecular Diagnostics, Rehman Medical Institute, Peshawar, Pakistan. [6] RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.;Faculty of Health, University of Plymouth, Plymouth, United Kingdom. [7] University Hospitals Plymouth NHS Trust, Plymouth, United Kingdom. [8] Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom. [9] RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.;Department of Pharmacology, Rajarshi Shahu College of Pharmacy, Malvihir, Buldana, India. [10] Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. [11] Department of Biological Sciences, International Islamic University, Islamabad, Pakistan. [12] Department of Biology, Concordia University, Montreal, Quebec, Canada.;Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada. [13]
DOI 10.1371/journal.pgen.1010114
PMID 35298461
发布时间 2022-05-17
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