Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L243_L244del2
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PMM2

NM_000303.3:p.L243_L244del2

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.

Edmondson AC et al.

Molecular Genetics and Metabolism, 0

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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."