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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Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.
PMID 19808432 · PMC2725366 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 7 setups
G1631D causes profound cardiac sodium channel dysfunction: markedly slowed inactivation (~10-fold), increased persistent current, depolarized voltage dependence of activation/inactivation, and slowed recovery from inactivation
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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
PMID 19092437 · PMC2810953 · Genetics in medicine : official journal of the American College of Medical Genetics · 2008 · 8 claims · 5 setups
CFTR-related disorders form a disease spectrum ranging from isolated congenital absence of the vas deferens (CAVD) to multiorgan classic cystic fibrosis (CF).
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Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida.
PMID 18553462 · PMC2630518 · Birth defects research. Part A, Clinical and molecular teratology · 2008 · 7 claims · 3 setups
NNMT was identified in a genome-wide linkage scan (Souto et al., 2005) as an important regulator of plasma homocysteine concentration in a Spanish population.
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The asthma consultative process: a collaborative approach to integrating genomics into public health practice.
PMID 15888238 · PMC1327721 · Preventing chronic disease · 2005 · 6 claims · 4 setups
A collaborative process combining literature review, expert working group input, and professional/community consultations can synthesize asthma genomics knowledge for public health practice.
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Metabolomics applied to diabetes research: moving from information to knowledge.
PMID 19875619 · PMC2768174 · Diabetes · 2009 · 8 claims · 7 setups
Metabolomics measures chemical phenotypes that are the net result of genomic, transcriptomic, and proteomic variability, providing the most integrated profile of biological status