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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Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations.
PMID 17640344 · PMC1939985 · BMC medical genetics · 2007 · 8 claims · 5 setups
Significant differences in 3'APOB-VNTR allele and genotype frequencies exist between Hei Yi Zhuang and Han populations
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BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
PMID 18704680 · PMC2775077 · Breast cancer research and treatment · 2009 · 8 claims · 8 setups
The Breast Cancer Family Registry is an open resource for collaborative interdisciplinary and translational studies of the genetic epidemiology of breast cancer.
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Angiotensin-converting enzyme gene insertion/deletion polymorphism in migraine patients.
PMID 18366776 · PMC2311324 · BMC neurology · 2008 · 6 claims · 3 setups
ACE I/D genotype and allele distributions do not differ significantly between migraine patients and controls
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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups
A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T
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Influence of two vaccination campaigns on genetic diversity of invasive Neisseria meningitidis isolates in northern Spain (1997-2008).
PMID 20041148 · PMC2794534 · PloS one · 2009 · 7 claims · 7 setups
Overall diversity of the invasive meningococcal population, measured by ST/clonal complex frequencies, allele numbers, polymorphic sites, and index of association, remained relatively constant throughout the 12-year study period despite the two vaccination campaigns.
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Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.
PMID 12107845 · PMC2376109 · British journal of cancer · 2002 · 8 claims · 1 setups
The SP-B intron 4 gene variant is significantly more frequent in squamous cell lung carcinoma (SCC) patients (25.0%) than in matched controls, OR=3.2, P=0.016
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Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups
CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.
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Target cell APOBEC3C can induce limited G-to-A mutation in HIV-1.
PMID 17967058 · PMC2042017 · PLoS pathogens · 2007 · 8 claims · 8 setups
APOBEC3C is necessary and sufficient to induce G-to-A mutation in some HIV-1 strains despite Vif expression
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Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.
PMID 8513767 · PMC1519656 · Environmental health perspectives · 1993 · 7 claims · 4 setups
In vivo hprt mutants from 63 independent donors were molecularly characterized by cDNA and genomic DNA PCR/sequencing.
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Proteomics as a method for early detection of cancer: a review of proteomics, exhaled breath condensate, and lung cancer screening.
PMID 18095050 · PMC2150625 · Journal of general internal medicine · 2008 · 8 claims · 7 setups
Protein expression is closely aligned with cellular activity, unlike genomic changes which may have no functional significance
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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups
Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472
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Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.
PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups
Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls
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Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.
PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups
Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.
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Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
PMID 18806880 · PMC2538492 · Molecular vision · 2008 · 8 claims · 4 setups
A novel heterozygous 1493A>T mutation in exon 7 of KRT3, predicting E498V, was identified as the cause of MCD in this family