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Variants in <i>LSM7</i> impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.

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第一作者: Alexa,Derksen
第一单位: Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
作者单位: Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada. [1] Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada. [2] Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada. [3] Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA. [4] Department of Biochemistry, Uniformed Services University of Health Sciences (USUHS), Bethesda, MD 20814, USA. [5] Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia. [6] Department of Obstetrics and Gynecology, Maternal Fetal Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia. [7] Neurosciences Department, Université de Montréal, Montréal, QC H3T 1J4, Canada. [8] Service de Génétique Médical, CHU Sainte-Justine, Montréal, QC H3T 1C5, Canada. [9] GeneDx, Gaithersburg, MD 20877, USA. [10] Brain and Spine Center and Primary Children's Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, UT 84113, USA. [11] Department of Biochemistry and Molecular Medicine, Université de Montréal, Montréal, QC H3T 1J4, Canada. [12] Department of Pediatrics, McGill University, Montréal, QC H3A 0G4, Canada. [13] Department of Human Genetics, McGill University, Montréal, H3A 0G4, Canada. [14] Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, QC H4A 3J1, Canada. [15]
DOI 10.1016/j.xhgg.2021.100034
PMID 35047835
发布时间 2022-01-21
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HGG advances

HGG advances

2021年2卷3期

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