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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPIB

Variant:p.G164S

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PPIB

NM_000942.5:p.G164S

hg38:chr15:64156763 C>T

Associated Papers

Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.

Sakuma I et al.

Communications Biology, 2023

37507476 (PubMed )

Supplement: 42003_2023_5160_MOESM2_ESM.pdf

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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."