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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p16 mutation spectrum in the premalignant condition Barrett's esophagus.
PMID 19043591 · PMC2585012 · PloS one · 2008 · 8 claims · 6 setups
44 of 304 Barrett's esophagus patients (14.5%) had p16 mutations (47 total mutations), with a spectrum consistent with oxidative damage and chronic inflammation
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Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree.
PMID 19716302 · PMC2748900 · Current biology : CB · 2009 · 7 claims · 4 setups
Direct sequencing of a 13-generation pedigree yields a Y-chromosome mutation rate of 3.0 × 10^-8 mutations/nucleotide/generation
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A spectrum of severe familial liver disorders associate with telomerase mutations.
PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups
Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.
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Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.
PMID 19078957 · PMC2696133 · Nature · 2009 · 8 claims · 8 setups
GNAQ is frequently somatically mutated in blue nevi (83%) and uveal melanoma (46%)
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Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.
PMID 19967551 · PMC7370861 · Journal of clinical immunology · 2010 · 8 claims · 8 setups
Three unrelated Argentinean HLH patients carry an identical novel homozygous 4-bp deletion (c.581_584delTGCC; p.Leu194ProfsX2) in STX11
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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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Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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Variation in the Neisseria lactamica porin, and its relationship to meningococcal PorB.
PMID 18451061 · PMC2885628 · Microbiology (Reading, England) · 2008 · 8 claims · 6 setups
N. lactamica por is less diverse than meningococcal porB2 and porB3
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Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups
Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series
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Has reproduction
CRISPR/Cas9 Screens Reveal Multiple Layers of B cell CD40 Regulation.
PMID 31365872 · PMC6684324 · Cell reports · 2019 · 8 claims · 8 setups
Genome-wide CRISPR/Cas9 screens in CD40L-stimulated Daudi B cells identify known CD40/NF-κB pathway components plus many novel positive and negative CD40 regulators.
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A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
PMID 19864672 · PMC2793117 · The New England journal of medicine · 2009 · 7 claims · 7 setups
A homozygous CARD9 point mutation (Q295X, premature termination codon) is associated with autosomal recessive susceptibility to chronic mucocutaneous candidiasis.