Varaico: Literature-Extracted Genetic Variants

Gene:PGM1
Variant:p.G260D
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PGM1

NM_001172818.1:p.G260D

Associated Papers

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.

Papi A et al.

Molecular Genetics & Genomic Medicine, 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."