Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

Overview of attention for article published in Frontiers in Genetics, October 2022

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New Research: Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon: A subgroup of congenital disorders of glycosylation (CDGs) includes inherited GPI-anchor… https://t.co/yxJf6

17 Oct 2022

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RT @dunckerUAEM: First PIGA-CDG case report in Mexico 🇲🇽. A #raredisease caused by deficient synthesis of sugar-mediated anchoring of prote…

17 Oct 2022

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RT @dunckerUAEM: First PIGA-CDG case report in Mexico 🇲🇽. A #raredisease caused by deficient synthesis of sugar-mediated anchoring of prote…

17 Oct 2022

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First PIGA-CDG case report in Mexico 🇲🇽. A #raredisease caused by deficient synthesis of sugar-mediated anchoring of proteins. A collaborative work, including @FrontierCDG. #glycotime https://t.co/86FEJ6rcK9

17 Oct 2022

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