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Wiley, Journal of Inherited Metabolic Disease, 6(43), p. 1321-1332, 2020

DOI: 10.1002/jimd.12278

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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature

Journal article published in 2020 by Diane B. Zastrow, Chunli Zhao, Stephan Zuchner, Devon L. Johnstone ORCID, Thi Tuyet Mai Nguyen ORCID, Jessica Zambonin, Maria T. Acosta, Margaret Adam, Kristin D. Kernohan, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Justin Alvey, Laura Amendola, Ashley Andrews and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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