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1 Ergebnisse
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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause N..:
Manole, Andreea
;
Efthymiou, Stephanie
;
O'Connor, Emer
...
The American Journal of Human Genetics. 107 (2020) 2 - p. 311-324 , 2020
Link:
https://doi.org/10.1016/j.ajhg.2020.06.016
RT Journal T1
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2020.06.016&Exemplar=1&LAN=DE A1 Manole, Andreea A1 Efthymiou, Stephanie A1 O'Connor, Emer A1 Mendes, Marisa I. A1 Jennings, Matthew A1 Maroofian, Reza A1 Davagnanam, Indran A1 Mankad, Kshitij A1 Lopez, Maria Rodriguez A1 Salpietro, Vincenzo A1 Harripaul, Ricardo A1 Badalato, Lauren A1 Walia, Jagdeep A1 Francklyn, Christopher S. A1 Athanasiou-Fragkouli, Alkyoni A1 Sullivan, Roisin A1 Desai, Sonal A1 Baranano, Kristin A1 Zafar, Faisal A1 Rana, Nuzhat A1 Ilyas, Muhammed A1 Horga, Alejandro A1 Kara, Majdi A1 Mattioli, Francesca A1 Goldenberg, Alice A1 Griffin, Helen A1 Piton, Amelie A1 Henderson, Lindsay B. A1 Kara, Benyekhlef A1 Aslanger, Ayca Dilruba PB Elsevier BV YR 2020 SN 0002-9297 JF The American Journal of Human Genetics VO 107 IS 2 SP 311 OP 324 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2020.06.016 DO https://doi.org/10.1016/j.ajhg.2020.06.016 SF ELIB - SuUB Bremen
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