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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Association between telomere length and V(H) gene mutation status in chronic lymphocytic leukaemia: clinical and biological implications.
PMID 12592375 · PMC2377180 · British journal of cancer · 2003 · 7 claims · 5 setups
Unmutated VH gene CLL cases have significantly shorter telomeres than mutated VH gene CLL cases
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Detection of mutations in EGFR in circulating lung-cancer cells.
PMID 18596266 · PMC3551471 · The New England journal of medicine · 2008 · 8 claims · 7 setups
The CTC-chip microfluidic device isolates CTCs from NSCLC patients in sufficient quantity and purity to permit EGFR mutational analysis
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Detection of p53 mutations in precancerous gastric tissue.
PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups
p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay
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Mutation analysis in primary immunodeficiency diseases: case studies.
PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups
Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results
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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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Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.
PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups
OPTC is a candidate gene involved in POAG pathogenesis
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The detection of K-ras mutations in colorectal cancer using the amplification-refractory mutation system.
PMID 9579832 · PMC2150152 · British journal of cancer · 1998 · 5 claims · 6 setups
ARMS reliably detects K-ras codon 12/13 mutations in archival CRC DNA samples even when mutant sequence is under-represented relative to wild-type
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Highly diversified multiply drug-resistant HIV-1 quasispecies in PBMCs: a case report.
PMID 18513421 · PMC2426714 · Retrovirology · 2008 · 7 claims · 6 setups
HIV-1 quasispecies in PBMCs are more genetically heterogeneous than in plasma
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Mosaicism in von Hippel-Lindau disease: an event important to recognize.
PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups
The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.
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hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
PMID 17207965 · PMC4647941 · Genomics · 2007 · 8 claims · 7 setups
hORFeome v3.1 is a resource of 12,212 cloned human ORFs representing 10,214 genes, a 51% expansion over hORFeome v1.1
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Genome-wide analysis of the human Alu Yb-lineage.
PMID 15588477 · PMC3525081 · Human genomics · 2004 · 8 claims · 6 setups
1,733 Alu Yb-lineage elements are present on human autosomal chromosomes
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B lymphocytes of xeroderma pigmentosum or Cockayne syndrome patients with inherited defects in nucleotide excision repair are fully capable of somatic hypermutation of immunoglobulin genes.
PMID 9236193 · PMC2198998 · The Journal of experimental medicine · 1997 · 6 claims · 3 setups
EBV-transformed B cells from NER-defective patients (XP-B, XP-D, XP-V, CS-A) show a high frequency of point mutations in Ig heavy and light chain V regions but not in C regions
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Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage.
PMID 12697062 · PMC156599 · BMC genetics · 2003 · 8 claims · 6 setups
Rabbit MYOC encodes a 490 amino acid, 54,882-Da protein that is 84% identical overall to human myocilin
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The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation.
PMID 16859552 · PMC1538596 · BMC genomics · 2006 · 7 claims · 7 setups
Numts co-amplified with mtDNA during PCR generate false heteroplasmic signals at specific nucleotide positions.
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ksgA mutations confer resistance to kasugamycin in Neisseria gonorrhoeae.
PMID 19097863 · PMC2723803 · International journal of antimicrobial agents · 2009 · 8 claims · 6 setups
Spontaneous KSG-resistant N. gonorrhoeae mutants arise exclusively through mutations in ksgA, not rpsI
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A highly polymorphic insertion in the Y-chromosome amelogenin gene can be used for evolutionary biology, population genetics and sexing in Cetacea and Artiodactyla.
PMID 18925953 · PMC2580767 · BMC genetics · 2008 · 8 claims · 6 setups
A 460–465 bp insertion is present in intron 4 of the Amel-Y locus in most Cetartiodactyla lineages (cetaceans and ruminants) but absent in pig