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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Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.
PMID 16502494 · PMC2687569 · Yonsei medical journal · 2006 · 8 claims · 6 setups
Two patients with congenital nephrogenic diabetes insipidus (NDI) presented with severe bilateral hydronephrosis, megaureter, and a distended bladder in the absence of any urinary tract obstruction.
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Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
PMID 16361827 · PMC2779314 · Journal of Korean medical science · 2005 · 8 claims · 5 setups
The patient carries a compound heterozygous missense mutation in AQP2: A70D (exon 1, paternal) and R187H (exon 3, maternal)
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Building exposure biology centers to put the E into "G x E" interaction studies.
PMID 19672377 · PMC2721881 · Environmental health perspectives · 2009 · 8 claims · 4 setups
Nongenetic factors account for high attributable risk (often 80-90%) across many chronic diseases, underscoring the importance of environmental exposure.
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Nutritional genomics, polyphenols, diets, and their impact on dietetics.
PMID 18954579 · PMC2692306 · Journal of the American Dietetic Association · 2008 · 8 claims · 8 setups
Nutrient-gene interactions, exemplified by the MTHFR C677T polymorphism, modulate individual metabolic responses (e.g., homocysteine metabolism) and can be offset by adjusting nutrient intake such as folate