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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

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Bibliographic Details
Published in:	Frontiers in genetics 2022, Vol.13, p.971473-971473
Main Authors:	Salinas-Marín, Roberta, Murakami, Yoshiko, González-Domínguez, Carlos Alberto, Cruz-Muñoz, Mario Ernesto, Mora-Montes, Héctor Manuel, Morava, Eva, Kinoshita, Taroh, Monroy-Santoyo, Susana, Martínez-Duncker, Iván
Format:	Report
Language:	English
Online Access:	Get full text
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