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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Polymorphic repeat in AIB1 does not alter breast cancer risk.
PMID 11056690 · PMC13920 · Breast cancer research : BCR · 2000 · 7 claims · 3 setups
AIB1 alleles with 26 or fewer glutamine repeats are not associated with increased breast cancer risk in the general population
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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
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Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.
PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups
Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.
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Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.
PMID 18565236 · PMC2442058 · BMC medical genetics · 2008 · 7 claims · 6 setups
The combined LD-PCR/DHPLC diagnostic strategy achieved a 100% mutation detection rate across 122 Taiwanese hemophilia A families.
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Exome sequencing of a multigenerational human pedigree.
PMID 20011588 · PMC2788131 · PloS one · 2009 · 8 claims · 6 setups
Microarray-based exome capture combined with 454 GS FLX NGS is an efficient and reliable method to enrich for chromosomal regions of interest, validated on eight individuals from a three-generation pedigree
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The proteogenomic path towards biomarker discovery.
PMID 18764911 · PMC2574627 · Pediatric transplantation · 2008 · 8 claims · 8 setups
Serum creatinine is a widely used but non-ideal biomarker for renal transplant monitoring because it lacks specificity and sensitivity for graft injury
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Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations.
PMID 18694524 · PMC2525636 · BMC biotechnology · 2008 · 8 claims · 4 setups
The mismatch-specific endonuclease method achieved 100% sensitivity and specificity for identifying HBB gene mutations in the study sample.
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Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.
PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups
Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC
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Prenatal molecular diagnosis of beta-thalassemia: report on the first two cases in Romania.
PMID 20108460 · PMC5654072 · Journal of medicine and life · 2008 · 7 claims · 5 setups
Combined DGGE, ARMS-PCR and PCR-RFLP molecular testing accurately detects β-thalassemia mutations in fetal DNA obtained by amniocentesis or CVS