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

Authors :: Manole, A
Efthymiou, S.
O'Connor, E.
Mendes, M.I.
Jennings, M.
Maroofian, R.
Davagnanam, I.
Raaphorst, J.
Pfundt, R.P.
Koolen, D.A.
Houlden, H.
Manole, A
Efthymiou, S.
O'Connor, E.
Mendes, M.I.
Jennings, M.
Maroofian, R.
Davagnanam, I.
Raaphorst, J.
Pfundt, R.P.
Koolen, D.A.
Houlden, H.
Source :: American Journal of Human Genetics; 311; 324; 0002-9297; 2; 107; ~American Journal of Human Genetics~311~324~~~0002-9297~2~107~~
Publication Year :: 2020
Abstract: Contains fulltext : 224623.pdf (Publisher’s version ) (Open Access)

Database :: OAIster
Journal :: American Journal of Human Genetics; 311; 324; 0002-9297; 2; 107; ~American Journal of Human Genetics~311~324~~~0002-9297~2~107~~
Publication Type :: Electronic Resource
Accession number :: edsoai.on1366914737
Document Type :: Electronic Resource

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