Associated Papers
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.
Choi J et al.
Science Advances, 2023
37556544 (PubMed )
Supplement: sciadv.adg6319_tables_s5_s6_s9_and_s11.zip › Table_S11.xlsx › Table_S11
Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose.
Overway EM et al.
The Journal of Biological Chemistry, 2022
Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression.
Boortz KA et al.
Plos One, 2016
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