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Author/Creator Rodriguez-Pombo, Pilar

1. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency. Issue 6 (3rd October 2022)

Authors:
Arribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A; Farris, Joseph; Østergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas V; Magistrati, Martina; Spector, Elaine B; Kronquist, Kathryn; Christensen, Mette; Karstens...
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 6(2023)
Page Start:
917
Record Type:
Journal Article
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