Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L244R
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PMM2

NM_000303.3:p.L244R

Associated Papers

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Wicker C et al.

Molecular Genetics and Metabolism, 2023

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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."