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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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
PMID 17511870 · PMC1888713 · BMC genetics · 2007 · 8 claims · 5 setups
Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A
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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups
Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy
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A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups
A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients
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Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.
PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups
Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed
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Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.
PMID 10027313 · PMC2362434 · British journal of cancer · 1999 · 7 claims · 5 setups
Allelic distribution of the Cyp19 intron 4 STRP differs significantly between breast cancer cases and controls