De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
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| Description | scientific article published on 31 July 2020 |
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author: Jean-Louis Mandel Felix Distelmaier Joost Raaphorst Alkyoni Athanasiou-Fragkouli Stilianos Antonarakis Saima Riazuddin |
| Publication date | July 31, 2020 |
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