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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Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
PMID 19122847 · PMC2585750 · Circulation. Arrhythmia and electrophysiology · 2008 · 7 claims · 5 setups
A missense R99H mutation in KCNE3 was identified in a Brugada Syndrome proband and cosegregates with the phenotype in the family (4/4 phenotype-positive, 0/3 phenotype-negative members carried it)
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The D2 dopamine receptor gene and nicotine dependence among bladder cancer patients and controls.
PMID 19842028 · PMC3719969 · Behavior genetics · 2010 · 8 claims · 5 setups
Among ever-smoking controls, A1 and B1 genotypes were associated with greater smoking intensity and younger age at smoking initiation than A2A2/B2B2
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External contamination in single cell mtDNA analysis.
PMID 17668059 · PMC1930155 · PloS one · 2007 · 8 claims · 6 setups
External DNA contamination is a real and non-negligible problem in single-cell mtDNA sequence analysis
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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups
A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls