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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An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.
PMID 18615206 · PMC2443752 · Molecular vision · 2008 · 7 claims · 2 setups
A heterozygous R124C (C417T) mutation in TGFBI was detected in all affected individuals across three unrelated Chinese pedigrees with LCD I.
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Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups
A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.
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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups
Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains
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Population genomics: diversity and virulence in the Neisseria.
PMID 18822386 · PMC2612085 · Current opinion in microbiology · 2008 · 8 claims · 8 setups
Horizontal genetic exchange (recombination) plays a central role in shaping bacterial speciation and population structure in Neisseria