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Paper Details

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.
Nat Commun
27
2019
ARS genes, ARSs, Aminoacyl, Aminoacyl-tRNA synthetases, Patient, VARS, VARS protein, VARS tRNA binding domain, amino acids, aminoacyl, anticodon domain, cortical atrophy, epileptic encephalopathy, global developmental delay, human, multi-organ diseases, neurodevelopmental epileptic encephalopathy, patients, pediatric neurodegeneration, primary cells, primary or progressive microcephaly, tRNA synthetase genes, valine, valine cytoplasmic-localized aminoacyl-tRNA synthetase, valyl, valyl-tRNA synthetase gene, white
Author NameAffiliation
Jennifer FriedmanUniversity of California San Diego
Jennifer FriedmanRady Children's Hospital
Jennifer FriedmanUniversity of California San Diego
Jennifer FriedmanRady Children's Institute for Genomic Medicine, Rady Children's Hospital
Mahmoud Y IssaNational Research Centre
John R CrawfordUniversity of California San Diego
John R CrawfordUniversity of California San Diego
John R CrawfordRady Children's Hospital
John R CrawfordUniversity of California San Diego
John R CrawfordRady Children's Hospital
John R CrawfordUniversity of California San Diego
Tawfeg Ben-OmranClinical and Metabolic Genetics, Hamad Medical Corporation
David DimmockRady Children's Institute for Genomic Medicine, Rady Children's Hospital
Stephen F KingsmoreRady Children's Institute for Genomic Medicine, Rady Children's Hospital
Maha S ZakiNational Research Centre
Joseph G GleesonUniversity of California San Diego
Joseph G GleesonRady Children's Hospital
Joseph G GleesonUniversity of California San Diego
Joseph G GleesonRady Children's Institute for Genomic Medicine, Rady Children's Hospital
Joseph G GleesonHoward Hughes Medical Institute, University of California
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