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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Population diversity and antibody selective pressure to Plasmodium falciparum MSP1 block2 locus in an African malaria-endemic setting.
PMID 19832989 · PMC2770483 · BMC microbiology · 2009 · 8 claims · 5 setups
The relative proportion of the three Pfmsp1 block2 allelic families (K1, Mad20, RO33) in Dielmo showed no significant temporal fluctuation over a 10-year period (1990-99).
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Genomic and phenotypic variation in epidemic-spanning Salmonella enterica serovar Enteritidis isolates.
PMID 19922635 · PMC2784474 · BMC microbiology · 2009 · 8 claims · 6 setups
S. Enteritidis isolates show a high degree of genetic homogeneity/uniformity across typing methods and CGH despite geographic, temporal and source differences.
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Assaying chromosomal inversions by single-molecule haplotyping.
PMID 16721377 · PMC2690135 · Nature methods · 2006 · 8 claims · 4 setups
Haplotype Fusion PCR (HF-PCR) juxtaposes sequences flanking an inversion breakpoint on single DNA molecules via emulsion PCR, generating orientation-specific fusion products diagnostic of inversion genotype
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A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups
A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients
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A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.
PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups
A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.
PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups
A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
PMID 16919418 · PMC2842930 · Genomics · 2006 · 8 claims · 8 setups
Human FXN YAC transgenes containing GAA repeat expansions (YG22, YG8) rescue the embryonic lethality of homozygous Fxn knockout mice
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Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.
PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups
Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2
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Nucleotide sequence polymorphism at the apical membrane antigen-1 locus reveals population history of Plasmodium vivax in Thailand.
PMID 19643205 · PMC2790030 · Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2009 · 8 claims · 6 setups
The domain II loop of PvAMA-1 is almost completely conserved at the amino acid level, consistent with strong purifying selection.
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The potato cyst nematode Globodera pallida overcomes major potato resistance through selection on standing variation at a single locus.
PMID 41495958 · PMC12917471 · The New phytologist · 2026 · 7 claims · 8 setups
GpaV^vrn, derived from Solanum vernei, is the major resistance source shared by all tested resistant commercial potato varieties, indicating a narrow genetic basis of potato resistance to G. pallida
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A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.
PMID 17596670 · PMC2693654 · Journal of Korean medical science · 2007 · 7 claims · 7 setups
The propositus shows mixed-field agglutination with anti-B that mimics the B3 ABO subtype but is not caused by a B3 allele.
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Malaria genomics meets drug-resistance phenotyping in the field.
PMID 19664295 · PMC2745762 · Genome biology · 2009 · 8 claims · 8 setups
Significantly longer parasite clearance times in Pailin (western Cambodia) versus Wang Pha (Thailand-Myanmar border) establish the presence of artemisinin resistance in western Cambodia.
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A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
PMID 18978954 · PMC2576480 · Molecular vision · 2008 · 8 claims · 6 setups
A C>A transversion in exon 2 of CERKL (c.316C>A) causes a missense change p.R106S in the nuclear localization signal sequence (KLKRR) of the protein.
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A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
PMID 19956411 · PMC2786888 · Molecular vision · 2009 · 6 claims · 7 setups
A novel de novo heterozygous nonsense mutation (c.413C>G, p.S138X) in OTX2 causes an early onset retinal dystrophy accompanied by pituitary dysfunction (growth hormone deficiency)
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Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
PMID 18509552 · PMC2391085 · Molecular vision · 2008 · 7 claims · 7 setups
Point mutations and small insertions/deletions in TOPORS cause approximately 1% of adRP
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Malaria research in the post-genomic era.
PMID 18843360 · PMC2705782 · Nature · 2008 · 8 claims · 7 setups
Genome-dependent methods can partially substitute for forward genetic approaches that are unavailable or limited in malaria parasites.
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Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.
PMID 19718270 · PMC2732717 · Molecular vision · 2009 · 7 claims · 6 setups
A novel homozygous frameshift insertion in PROM1 (c.1349insT) causes cone-rod dystrophy with high myopia in this consanguineous family
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Geographically Distinct Circulation of Genotype II and III St. Louis Encephalitis Virus, Texas, USA, 2009-2024.
PMID 41986946 · PMC13094854 · Emerging infectious diseases · 2026 · 7 claims · 7 setups
Genotype II and genotype III SLEV circulated concurrently in Texas during 2009–2024 but were geographically segregated, with no county having both.
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Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups
CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations
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Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays.
PMID 17470268 · PMC1868757 · BMC genomics · 2007 · 8 claims · 7 setups
graCNV uses re-annotated Affymetrix expression microarray probe sets and the WPP algorithm to measure DNA copy number variation at a median resolution of ~17,500 bp without genomic complexity reduction.