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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High-density SNP genotyping to define beta-globin locus haplotypes.
PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups
RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus
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A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.
PMID 17686168 · PMC1995191 · BMC medical genetics · 2007 · 7 claims · 5 setups
A novel mutation c.49C>T (p.Pro17Ser) in exon 1 of DSPP causes type II DGI in this Chinese family.
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Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
PMID 17214878 · PMC1779775 · BMC genomics · 2007 · 8 claims · 7 setups
The proportion of subjects lacking DEFA3 varies significantly by population, from 10% to 37%
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Cannabinoid type-1 receptor gene polymorphisms are associated with central obesity in a Southern Brazilian population.
PMID 18776593 · PMC3827795 · Disease markers · 2008 · 8 claims · 5 setups
The CNR1 4895G allele is associated with waist-to-hip ratio (WHR)
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Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups
Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)
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Interaction of vitamin D receptor with HLA DRB1 0301 in type 1 diabetes patients from North India.
PMID 19956544 · PMC2780726 · PloS one · 2009 · 8 claims · 6 setups
Interaction between VDR and HLA alleles is mediated by a VDRE present in the promoter region of HLA-DRB1*0301, which may be detrimental in the absence of 1,25-(OH)2D3 in early childhood.
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The vaginal bacterial communities of Japanese women resemble those of women in other racial groups.
PMID 19912342 · PMC2868947 · FEMS immunology and medical microbiology · 2010 · 7 claims · 5 setups
The types of vaginal bacterial communities found in Japanese women closely resemble those previously found in White and Black North American women.
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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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Haplotype frequencies at the DRD2 locus in populations of the East European Plain.
PMID 19793394 · PMC2765450 · BMC genetics · 2009 · 8 claims · 4 setups
The three-locus TaqI B-TaqI D-TaqI A haplotype at DRD2 constitutes a powerful genetic marker reflecting the most ancient dispersal of anatomically modern humans
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A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.
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A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups
A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19
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Willing to do the math: an interview with David Botstein. Interview by Jane Gitschier.
PMID 16733551 · PMC1464829 · PLoS genetics · 2006 · 8 claims · 5 setups
Highly polymorphic, multiallelic DNA markers spaced across the genome could be used to build a complete human genetic linkage map
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Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.
PMID 18682812 · PMC2493029 · Molecular vision · 2008 · 7 claims · 3 setups
CFH Y402H (rs1061170) variant is not associated with exudative AMD in this northern Chinese cohort
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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations
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Characterization, expression profiles, intracellular distribution and association analysis of porcine PNAS-4 gene with production traits.
PMID 18588709 · PMC2464599 · BMC genetics · 2008 · 8 claims · 7 setups
Porcine PNAS-4 encodes a 194-amino-acid protein that localizes to the Golgi complex