Varaico: Literature-Extracted Genetic Variants

Gene:PGM1
Variant:p.Y232_V233delFs
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PGM1

NM_002633.3:p.Y232_V233delFs

Associated Papers

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.

Radenkovic S et al.

Therapeutic Advances in Rare Disease, 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."