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A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families.

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作者单位: Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia. [1] Center of Excellence for Biomedicine, Joint Centers for Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia. [2] Bioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia. [3] Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia. [4] Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, F-34090 Montpellier, France. [5] Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia. [6] Radiology Department, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia. [7] Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia. [8] Department of Botany and Microbiology, College of Science, King Saud University, Riyadh 11451, Saudi Arabia. [9] Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia. [10] Welcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. [11] College of Medicine, Alfaisal University, P.O. Box 50927, Riyadh 11533, Saudi Arabia. [12] NHS Highly Specialized Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK. [13]
DOI 10.3390/cells11193154
PMID 36231115
发布时间 2024-02-14
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Cells

Cells

2022年11卷19期

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