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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PGAM2

Variant:p.R5H

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PGAM2

NM_000290.4:p.R5H

hg38:chr7:44065516 C>T

Associated Papers

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.

Beyzaei Z et al.

Scientific Reports, 2021

33782433 (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."