Associated Papers
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.
Willems SM et al.
Wellcome Open Research, 2023
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
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Glucose metabolism-related gene polymorphisms as the risk predictors of type 2 diabetes.
Li C et al.
Diabetology & Metabolic Syndrome, 2020
Susceptibility to type 2 diabetes may be modulated by haplotypes in G6PC2, a target of positive selection.
Al-Daghri NM et al.
Bmc Evolutionary Biology, 2017
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
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
Wessel J et al.
Nature Communications, 2015
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
Mahajan A et al.
Plos Genetics, 2015
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
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