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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
SYNAPS Study Group
Division of Genetics and Genomic Medicine
Institute of Clinical and Translational Sciences (ICTS)
Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
DBBS - Biomedical Informatics and Data Science
DBBS - Molecular Genetics and Genomics
Intellectual and Developmental Disabilities Research Center (IDDRC)
Edison Family Center for Genome Sciences & Systems Biology
Research output
:
Contribution to journal
›
Article
›
peer-review
37
Scopus citations
Overview
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Dive into the research topics of 'De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects'. Together they form a unique fingerprint.
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Keyphrases
Loss Function
100%
Pathogenic Variants
100%
Developmental Delay
100%
Partial Loss
100%
Biallelic
100%
Toxic Gain of Function
100%
Transfer RNA (tRNA)
66%
Biallelic mutations
66%
MRNA Expression
33%
Peripheral Neuropathy
33%
Seizure
33%
Amino Acids
33%
Fibroblasts
33%
Molecular Modeling
33%
Enzyme Level
33%
Enzyme Activity
33%
Microcephaly
33%
Ataxia
33%
Neurodevelopmental Disorders
33%
Protein Translation
33%
Aminoacyl-tRNA Synthetase
33%
Recessive Variants
33%
Spatial Positioning
33%
Induced Neural Stem Cells (iNSCs)
33%
Aspartyl-tRNA Synthetase
33%
Biochemistry, Genetics and Molecular Biology
Transfer RNA
100%
Enzyme
66%
Amino Acids
33%
Progenitor Cell
33%
Molecular Model
33%
Aminoacyl tRNA Synthetase
33%
Translation (Protein Synthesis)
33%
Messenger RNA
33%
Fibroblast
33%