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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BRCA1 mutations in southern England.
PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups
Early age of onset combined with a strong family history is the most effective selection criterion for detecting BRCA1 mutations, more so than bilaterality alone
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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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Discrimination of double primary lung cancer from intrapulmonary metastasis by p53 gene mutation.
PMID 10188905 · PMC2362717 · British journal of cancer · 1999 · 7 claims · 3 setups
p53 mutation patterns can be used as a clonal marker to discriminate double primary lung cancer from intrapulmonary metastasis in synchronous double lung tumours.
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Mutational spectrum of p53 gene in arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan.
PMID 10362120 · PMC2363055 · British journal of cancer · 1999 · 7 claims · 4 setups
p53 gene mutation rate is high in arsenic-related skin cancers (39% Bowen's disease, 28.6% BCC, 55.6% SCC)
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BRAF mutations in non-Hodgkin's lymphoma.
PMID 14612909 · PMC2394455 · British journal of cancer · 2003 · 7 claims · 4 setups
BRAF is somatically mutated in a subset of NHLs (4/164, 2.4%)
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Detecting DNA modifications from SMRT sequencing data by modeling sequence context dependence of polymerase kinetic.
PMID 23516341 · PMC3597545 · PLoS computational biology · 2013 · 8 claims · 7 setups
Local sequence context strongly determines position-specific polymerase kinetic rate: roughly 80% of IPD variation is explained by a 10 bp context (7 bases upstream, 2 bases downstream of the incorporation site), saturating at 7 bases upstream.
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Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.
PMID 18615205 · PMC2443751 · Molecular vision · 2008 · 8 claims · 5 setups
The family's late-onset ectopia lentis and secondary glaucoma phenotype shows genetic linkage to the FBN1 locus on chromosome 15q21.1
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Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.
PMID 16542438 · PMC1526716 · BMC medical genetics · 2006 · 8 claims · 6 setups
Mutations in the OAZ3 gene are not a common cause of male infertility
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Cryptic loxP sites in mammalian genomes: genome-wide distribution and relevance for the efficiency of BAC/PAC recombineering techniques.
PMID 17284462 · PMC1865043 · Nucleic acids research · 2007 · 6 claims · 6 setups
Cryptic lox P sites occur frequently and are homogeneously distributed across the mouse genome (1.2 primary sites per megabase).
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Sequence variations of GRM6 in patients with high myopia.
PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups
Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls
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APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.
PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups
Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.
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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups
A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP
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p53 mutations, protein expression and cell proliferation in squamous cell carcinomas of the head and neck.
PMID 7710950 · PMC2033757 · British journal of cancer · 1995 · 6 claims · 4 setups
There is a discrepancy between p53 immunoreactivity and p53 gene mutation status, with mutations found in similar proportions of immunopositive and immunonegative tumours.
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Spotted-fever group Rickettsia in Dermacentor variabilis, Maryland.
PMID 15496254 · PMC3320417 · Emerging infectious diseases · 2004 · 8 claims · 6 setups
SFG Rickettsia infection prevalence in Maryland D. variabilis was 3.8% (15/392)
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Recovery of bisulfite-converted genomic sequences in the methylation-sensitive QPCR.
PMID 17439964 · PMC1888819 · Nucleic acids research · 2007 · 8 claims · 7 setups
Bisulfite treatment causes DNA strand breakage (via abasic site formation and beta-elimination) in addition to cytosine deamination.
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Differences in the histological findings, phenotypic marker expressions and genetic alterations between adenocarcinoma of the gastric cardia and distal stomach.
PMID 17262083 · PMC2360051 · British journal of cancer · 2007 · 8 claims · 6 setups
C-Ca is associated with a significantly higher incidence of differentiated-type tumours and lymphatic vessel invasion (LVI) compared with D-Ca