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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Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.
PMID 18631405 · PMC2496902 · BMC medical genetics · 2008 · 7 claims · 2 setups
The Flt-1 d(TG)n repeat polymorphism is not associated with the development of preeclampsia in Korean pregnant women
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A universal mechanism ties genotype to phenotype in trinucleotide diseases.
PMID 18039028 · PMC2082501 · PLoS computational biology · 2007 · 8 claims · 5 setups
A universal mechanism of somatic, length-dependent trinucleotide repeat expansion toward a disease-specific pathological threshold explains genotype-phenotype correlations common to trinucleotide diseases
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A single-step sequencing method for the identification of Mycobacterium tuberculosis complex species.
PMID 18618024 · PMC2453075 · PLoS neglected tropical diseases · 2008 · 7 claims · 8 setups
ETR-D sequencing allows accurate, single-step identification of MTC species, circumventing the expensive polyphasic approach.
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Short tandem repeat sequences in the Mycoplasma genitalium genome and their use in a multilocus genotyping system.
PMID 18664269 · PMC2515158 · BMC microbiology · 2008 · 8 claims · 7 setups
18 STR loci (1-5 base repeat units, copy number 4-26) were identified in the M. genitalium G37 genome via bioinformatics analysis.
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Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains.
PMID 18590534 · PMC2481270 · BMC genomics · 2008 · 8 claims · 6 setups
B. pertussis strains carrying the ptxP3 allele gradually replaced ptxP1 strains and became predominant from 1998, coinciding with the Dutch pertussis resurgence
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Cryptococcus neoformans strains and infection in apparently immunocompetent patients, China.
PMID 18439357 · PMC2600263 · Emerging infectious diseases · 2008 · 8 claims · 8 setups
71% (91/129) of Chinese cryptococcosis clinical isolates (1985-2006) came from patients with no apparent risk factor, versus only 8.5% from AIDS patients, contrasting sharply with other countries
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Has reproduction · 84
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups
Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1
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Tissue plasminogen activator and plasminogen activator inhibitor type 1 gene polymorphism in patients with gastric ulcer complicated with bleeding.
PMID 12589088 · PMC3054991 · Journal of Korean medical science · 2003 · 6 claims · 5 setups
The t-PA I/D or D/D genotype is significantly associated with duodenal (vs gastric) ulcer location
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Association of Escherichia coli O157:H7 tir polymorphisms with human infection.
PMID 17718910 · PMC2063500 · BMC infectious diseases · 2007 · 8 claims · 6 setups
tir polymorphisms 255 T>A and RR1-RU3 (presence/absence) associate strongly with human vs bovine isolate source
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Comparative genomics of Helicobacter pylori isolates recovered from ulcer disease patients in England.
PMID 15916705 · PMC1180443 · BMC microbiology · 2005 · 8 claims · 8 setups
H. pylori strains from England are genetically distinct from strains obtained from other countries based on virulence gene analysis (cagT, cagE, cagA, vacA, iceA, oipA, babB)
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Genome analysis of multi- and extensively-drug-resistant tuberculosis from KwaZulu-Natal, South Africa.
PMID 19890396 · PMC2767505 · PloS one · 2009 · 8 claims · 4 setups
Rifampicin resistance (rpoB) and pyrazinamide resistance (pncA) mutations occur at different nucleotide positions in the MDR and XDR strains, showing they were acquired independently and that the XDR strain did not evolve directly from this MDR strain.
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Analysis of virulence factors of Helicobacter pylori isolated from a Vietnamese population.
PMID 19698173 · PMC2739534 · BMC microbiology · 2009 · 8 claims · 5 setups
Three distinct deletion patterns (39-bp, 18-bp, no deletion) exist upstream of the cagA EPIYA repeat region (pre-EPIYA region), providing a novel genotyping marker.
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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups
All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism
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Magnetization transfer imaging in 'premanifest' Huntington's disease.
PMID 19823894 · PMC2837878 · Journal of neurology · 2010 · 8 claims · 4 setups
MTI parameters (mean MTR and normalized peak height) of whole brain, grey matter and white matter did not differ significantly between premanifest HD carriers and non-carriers
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Mycoplasma genitalium: an efficient strategy to generate genetic variation from a minimal genome.
PMID 17784912 · PMC2169797 · Molecular microbiology · 2007 · 8 claims · 6 setups
MG192 is highly variable among and within M. genitalium strains both in vitro and in vivo
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Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.
PMID 17298666 · PMC1805452 · BMC neurology · 2007 · 8 claims · 8 setups
Four unrelated NA patients show a novel erythrocyte membrane defect: 4.1R protein deficiency
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A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups
A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family
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Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.
PMID 19861964 · PMC2778539 · British journal of cancer · 2009 · 7 claims · 8 setups
BRAF mutations can be detected in serum cfDNA of advanced melanoma patients using an ARMS allele-specific PCR assay
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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups
A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family