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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PGM1

Variant:p.F257L

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PGM1

NM_002633.3:p.F257L

hg38:chr1:63634917 T>A

Associated Papers

Central nervous involvement is common in PGM1-CDG.

Radenkovic S et al.

Molecular Genetics and Metabolism, 2018

30262252 (PubMed )

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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."