Published in
Cell Press, American Journal of Human Genetics, 2(107), p. 311-324, 2020
DOI: 10.1016/j.ajhg.2020.06.016
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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 article published in 2020 by
Andreea Manole,
Stephanie Efthymiou 
,
Emer O’Connor,
Marisa I. Mendes,
Matthew Jennings,
Reza Maroofian,
Indran Davagnanam,
Kshitij Mankad,
Maria Rodriguez Lopez,
Vincenzo Salpietro,
Ricardo Harripaul,
Lauren Badalato,
Jagdeep Walia,
Christopher S. Francklyn,
Alkyoni Athanasiou-Fragkouli
and other authors.
,
Emer O’Connor,
Marisa I. Mendes,
Matthew Jennings,
Reza Maroofian,
Indran Davagnanam,
Kshitij Mankad,
Maria Rodriguez Lopez,
Vincenzo Salpietro,
Ricardo Harripaul,
Lauren Badalato,
Jagdeep Walia,
Christopher S. Francklyn,
Alkyoni Athanasiou-Fragkouli
and other authors.
This paper was not found in any repository, but could be made available legally by the author.
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