Title: De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects (4714)
Abstract: We aimed to provide genetic proof for mutations in asparaginyl-tRNA synthetase (NARS1) and analyze their impact through the use of individual cell lines, neural progenitor cells, and molecular modelling.
Publication Year: 2021
Publication Date: 2021-04-13
Language: en
Type: article
Indexed In: ['crossref']
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Cited By Count: 4
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