Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L99*
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PMM2

NM_000303.3:p.L99*

Associated Papers

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Holubova V et al.

Journal of Inherited Metabolic Disease, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."