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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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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Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.
PMID 11454237 · PMC34549 · BMC genetics · 2001 · 6 claims · 4 setups
The desmuslin (DMN) gene was localized to chromosome 15q26.3 via electronic screening of the human genome database, and its 5-exon genomic organization was determined.
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Mixed Cryptosporidium infections and HIV.
PMID 16707069 · PMC3373040 · Emerging infectious diseases · 2006 · 7 claims · 5 setups
Mixed Cryptosporidium infections were detected in 7 of 21 patients originally diagnosed with only C. canis or C. felis
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Molecular epidemiology and pathogenic potential of underdiagnosed human papillomavirus types.
PMID 18601724 · PMC2491624 · BMC microbiology · 2008 · 8 claims · 7 setups
Many mucosal HPV types are missed by widely used commercial assays (HC2, INNO-LiPA, Amplicor/LA), causing substantial underdiagnosis of HPV infections
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Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups
The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.
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A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.
PMID 17615540 · PMC2768755 · Molecular vision · 2007 · 8 claims · 4 setups
A novel heterozygous C260T substitution in GJA3, causing a Thr87Met (T87M) change, is associated with a distinct 'pearl box' cataract phenotype in family CC-472.
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Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
PMID 17515881 · PMC2669507 · Molecular vision · 2007 · 8 claims · 6 setups
Five RS1 mutations (c.574C>T, c.583A>G, c.608C>T, c.617G>A, c.637C>T) were identified in exon 6 of six unrelated Indian XLRS patients
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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups
Mutations in USH2A are responsible for most cases of USH2
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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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The commonly-used DNA probe for diffusely-adherent Escherichia coli cross-reacts with a subset of enteroaggregative E. coli.
PMID 20025771 · PMC2803494 · BMC microbiology · 2009 · 7 claims · 5 setups
The daaC probe cross-hybridizes with a specific subset of EAEC strains, namely those carrying the aafA gene (AAF/II fimbriae)