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 RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups
Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains
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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
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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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Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining.
PMID 19653712 · PMC2810483 · Archives of pathology & laboratory medicine · 2009 · 6 claims · 7 setups
Anterior diffuse retinoblastoma, traditionally considered sporadic/nonheritable, can arise from a germline RB1 mutation and thus may be heritable
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Mutational landscape and molecular bases of echinocandin resistance in Saccharomyces cerevisiae.
PMID 41766466 · PMC13147539 · Genetics · 2026 · 8 claims · 5 setups
The three echinocandin resistance hotspots of Fks1 form a single, solvent-exposed, water-filled binding cavity spanning hotspot 1, 2, and 3
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WAF1/CIP1 structural abnormalities do not contribute to cell cycle deregulation in ovarian cancer.
PMID 8645586 · PMC2074480 · British journal of cancer · 1996 · 7 claims · 5 setups
No WAF1/CIP1 coding mutations were found in any of 36 ovarian carcinomas sequenced, including tumors with LOH on 6p and those lacking p53 mutations
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Ovarian cancer has frequent loss of heterozygosity at chromosome 12p12.3-13.1 (region of TEL and Kip1 loci) and chromosome 12q23-ter: evidence for two new tumour-suppressor genes.
PMID 9155043 · PMC2228239 · British journal of cancer · 1997 · 8 claims · 4 setups
Two commonly deleted regions on chromosome 12 were identified in ovarian cancer: 12p12.3-13.1 (6/23 samples) and 12q23-ter (7/23 samples)
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Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.
PMID 19826477 · PMC2757721 · PloS one · 2009 · 8 claims · 8 setups
Homozygous mutations of oncogenes are frequent (20%) across 833 cancer cell lines of 12 tumor types in the Sanger database
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Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.
PMID 18645989 · PMC5715470 · American journal of hematology · 2008 · 7 claims · 8 setups
Monozygotic twin A (severe hemophilia A, FVIII:C <1%) shows complete nonrandom X-inactivation skewed toward the paternal (normal factor VIII) X-chromosome
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Divergent clonal evolution and tumor microenvironment remodeling shape gastric cancer peritoneal metastasis.
PMID 41882239 · PMC13181027 · Communications biology · 2026 · 8 claims · 7 setups
Substantial intra-patient heterogeneity exists between GCPM and primary tumors at both genetic and functional (transcriptomic) levels
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Duplex-Indel: a Snakemake pipeline for somatic Indel calling in Tn5 transposase-based duplex sequencing data.
PMID 42046229 · PMC13171174 · Bioinformatics (Oxford, England) · 2026 · 8 claims · 8 setups
Duplex-Indel is a Snakemake pipeline for somatic Indel calling from Tn5 transposase-based duplex sequencing data that requires consensus support from both DNA strands to minimize technical artifacts.
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Phylogenetic variation and polymorphism at the toll-like receptor 4 locus (TLR4).
PMID 11104518 · PMC31919 · Genome biology · 2000 · 7 claims · 7 setups
The Tlr4 extracellular domain is far more variable than the cytoplasmic domain, both among mouse strains and among species
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Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.
PMID 16847467 · PMC3099416 · The pharmacogenomics journal · 2007 · 8 claims · 6 setups
NAT2 variants are homogeneously distributed across native populations of the American continent
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Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.
PMID 18304320 · PMC2292740 · BMC genetics · 2008 · 8 claims · 8 setups
NAT2 coding region sequence variation in the Mandenka and other sub-Saharan African populations is consistent with selective neutrality and constant population size.