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Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
Roberta Salinas-Marín, Yoshiko Murakami, Carlos Alberto González-Domínguez, Mario Ernesto Cruz-Muñoz, Héctor Manuel Mora-Montes, Eva Morava, Taroh Kinoshita, Susana Monroy-Santoyo, Iván Martínez-Duncker
Research output: Contribution to journal › Article › peer-review