Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy

Autor:	Neal Sondheimer, Alberto Aleman, Jessie Cameron, Hernan Gonorazky, Nesrin Sabha, Paula Oliveira, Kimberly Amburgey, Azizia Wahedi, Dahai Wang, Michael Shy, James J. Dowling.
Rok vydání:	2023
Předmět:	Molecular Medicine Genetics (clinical)
Zdroj:	Human Genetics and Genomics Advances. 4:100182
ISSN:	2666-2477
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::650971a39e3af3a3dc4bf4e72deeb2a9 https://doi.org/10.1016/j.xhgg.2023.100182 Zobrazit plný text záznamu