De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Journal: Am J Hum Genet

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Year of Publication: 2020

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Citations :  2
Authors :  0
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Doi : 10.1016/j.ajhg.2020.06.016
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Male,Female
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318
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