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. |
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Rok vydání: | 2023 |
Předmět: | |
Zdroj: | Human Genetics and Genomics Advances. 4:100182 |
ISSN: | 2666-2477 |
Databáze: | OpenAIRE |
Externí odkaz: |