Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.
PMID 18836848 · PMC4319114 · Journal of inherited metabolic disease · 2008 · 7 claims · 8 setups
Synergistic heterozygosity — cumulative heterozygous mutations at multiple loci in functionally related metabolic pathways — can cause physiologically relevant reduction of pathway flux and disease.
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Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups
16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis
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Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
PMID 18193044 · PMC2682493 · Nature genetics · 2008 · 8 claims · 7 setups
GWAS plus targeted replication identified 18 loci reproducibly associated with LDL cholesterol, HDL cholesterol, and/or triglycerides, six of which are newly identified
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Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.
PMID 20003313 · PMC2797770 · Cardiovascular diabetology · 2009 · 7 claims · 6 setups
The Val/Met255 mutation (G→A substitution at codon 255) in HNF4α is present at a considerable frequency among Iranian clinical MODY patients