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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The HIV positive selection mutation database.
PMID 17108357 · PMC1669717 · Nucleic acids research · 2007 · 8 claims · 5 setups
The database provides codon-level Ka/Ks selection pressure maps for HIV protease and the first 381 codons of RT, built from a novel ~50,000-sample clinical dataset.
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Multiplexed genetic analysis using an expanded genetic alphabet.
PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups
MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h
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Genomic signatures of human versus avian influenza A viruses.
PMID 17073083 · PMC3294750 · Emerging infectious diseases · 2006 · 8 claims · 6 setups
52 validated 'species-associated' amino acid positions distinguish human from avian influenza A viruses
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TccP2-mediated subversion of actin dynamics by EPEC 2 - a distinct evolutionary lineage of enteropathogenic Escherichia coli.
PMID 17526832 · PMC2884950 · Microbiology (Reading, England) · 2007 · 7 claims · 8 setups
tccP2 is present in 26 of 27 (96.2%) EPEC 2 lineage strains and absent from all 34 EPEC 1 strains tested
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COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups
COMP mutations were identified in 78% of families referred with PSACH
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Specific Marker Gene Analysis for Primary Central Nervous System Lymphoma Based on Methylation Difference and Development of Detection Primers.
PMID 41097902 · PMC12528802 · Brain and behavior · 2025 · 6 claims · 6 setups
RHEB promoter hypermethylation is a PCNSL-specific biomarker distinguishing PCNSL from other CNS diseases.
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Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups
The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.
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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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PathogenMIPer: a tool for the design of molecular inversion probes to detect multiple pathogens.
PMID 17105657 · PMC1657037 · BMC bioinformatics · 2006 · 6 claims · 5 setups
PathogenMIPer designs unique, target-specific MIP probes, assembling all probe components (target-specific sequences, barcodes, universal primers, restriction sites) into ready-to-order probes for any genome.
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Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups
CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID
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Genotypic analysis of two hypervariable human cytomegalovirus genes.
PMID 18649324 · PMC2658010 · Journal of medical virology · 2008 · 8 claims · 8 setups
UL146 sequences from 184 samples fall into the same 14 genotypes (G1-G14) previously defined, with no new genotypes found.
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Relationships between emm and multilocus sequence types within a global collection of Streptococcus pyogenes.
PMID 18405369 · PMC2359762 · BMC microbiology · 2008 · 8 claims · 5 setups
emm type is often a poor marker for clonal genetic background across the global S. pyogenes collection
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Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups
Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair
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Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups
Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.
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Rapid detection of ERG11 gene mutations in clinical Candida albicans isolates with reduced susceptibility to fluconazole by rolling circle amplification and DNA sequencing.
PMID 19682357 · PMC2782262 · BMC microbiology · 2009 · 8 claims · 5 setups
The RCA assay correctly identified all ERG11 mutations in eight 'reference' azole-resistant C. albicans isolates with known mutations.
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Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
PMID 16361827 · PMC2779314 · Journal of Korean medical science · 2005 · 8 claims · 5 setups
The patient carries a compound heterozygous missense mutation in AQP2: A70D (exon 1, paternal) and R187H (exon 3, maternal)
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A chromosomally integrated bacteriophage in invasive meningococci.
PMID 15967821 · PMC2212043 · The Journal of experimental medicine · 2005 · 8 claims · 7 setups
An 8-kb genetic island (NMA1792-NMA1799) is specifically associated with hyperinvasive meningococcal clonal complexes
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Predicting preferential DNA vector insertion sites: implications for functional genomics and gene therapy.
PMID 18047689 · PMC2106846 · Genome biology · 2007 · 8 claims · 6 setups
Vector insertion site preferences differ substantially between viral vectors and transposons, affecting both oncogenic risk in gene therapy and utility for functional genomics
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Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.
PMID 18580586 · PMC2750842 · Alzheimer disease and associated disorders · 2008 · 8 claims · 8 setups
The PSEN1 N135S mutation causes EOFAD with an atypical phenotype including spastic dysarthria, limb spasticity, and seizures in addition to typical cognitive deficits
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When does a protein become an allergen? Searching for a dynamic definition based on most advanced technology tools.
PMID 18477011 · PMC2607534 · Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2008 · 7 claims · 8 setups
IgE-binding is not an intrinsic property of a protein but the result of an interaction between two molecules (antigen and IgE), so a molecule can only be classified relative to demonstrated IgE binding.