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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FMO5

Variant:p.R216S

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FMO5

NM_001461.4:p.R216S

hg38:chr1:147209034 C>A

Associated Papers

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.

Chou JY et al.

Nature Reviews. Endocrinology, 2010

20975743 (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."