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Paper Details

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
29
2020
ARSs, Aminoacyl, Aminoacyl-tRNA synthetases, Arg545Cys, NARS1, NARS1 enzyme, NARS1 mRNA, Neurodevelopmental Delay, amino acids, asparaginyl, asparaginyl-tRNA synthetase, ataxia, c.1633C, c.1633C>T, cognate, fibroblasts, iNPCs, induced neural progenitor cells, microcephaly, neurodevelopmental delay, neurodevelopmental disease, p.Arg545Cys, peripheral neuropathy, recessive variants, seizures, tRNA
Author NameAffiliation
Emer O'ConnorUniversity College London (UCL) Institute of Neurology
Majdi KaraTripoli Children's Hospital
Rasim O RostiHoward Hughes Medical Institute, University of California San Diego and Rady Children's Hospital
Federico SantoniUniversity of Geneva, University Hospital of Lausanne
J??rg B??hlerInstitute of Healthy Ageing, University College London (UCL)
Anna SarkozyInstitute of Child Health, Great Ormond Street Hospital for Children
Stylianos E AntonarakisUniversity of Geneva, University Hospitals of Geneva, Switzerland iGE3 Institute of Genetics and Genomics of Geneva
Rita HorvathUniversity of Cambridge
Joseph G GleesonHoward Hughes Medical Institute, University of California San Diego and Rady Children's Hospital
David A KoolenDonders Institute for Brain, Radboud University Medical Center
Henry HouldenUniversity College London (UCL) Institute of Neurology
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