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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A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).
PMID 15716625 · PMC2808567 · Journal of Korean medical science · 2005 · 8 claims · 6 setups
A 13-year-old boy and five affected relatives across three generations with hypokalemic periodic paralysis carry the R1239G mutation in CACNA1S
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Has reproduction · 80
DMN-seq enriches DNA hypomethylated regions for biomarker discovery using 5-methylcytosine glycosylase.
PMID 41673887 · PMC13097799 · Genome biology · 2026 · 7 claims · 8 setups
DME-mediated nicking enables DMN-seq (DMN+) to detect 5mC at single-base resolution by ligating adaptors only to 5mC-containing fragments generated by DME excision
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Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups
Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing
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Has reproduction · 85
Improving genomic prediction accuracy for methane emission and feed efficiency in sheep: integrating rumen microbial PCA with host genomic variation using neural network GBLUP (NN-GBLUP).
PMID 40676527 · PMC12273308 · Genetics, selection, evolution : GSE · 2025 · 6 claims · 8 setups
PCA effectively reduces the dimensionality of high-dimensional RMC data while retaining essential biological information.
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Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.
PMID 18541010 · PMC2435117 · Molecular cancer · 2008 · 8 claims · 5 setups
The CTNNB1 stabilizing mutation S37A was detected in 6 of 104 (5.8%) sporadic parathyroid adenomas by direct DNA sequencing.
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Has reproduction · 89
A computational pipeline to visualize DNA-protein binding states using dSMF data.
PMID 35463472 · PMC9026571 · STAR protocols · 2022 · 8 claims · 2 setups
The pipeline maps states of protein-binding DNA in vivo using dSMF data and identifies binding states at an enhancer in Drosophila S2 cells
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Recombinant vaccine-derived poliovirus in Madagascar.
PMID 12899139 · PMC3023450 · Emerging infectious diseases · 2003 · 7 claims · 4 setups
Five acute flaccid paralysis cases in southern Madagascar were associated with vaccine-derived poliovirus (VDPV) type 2 isolates
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DNA sequence and analysis of human chromosome 9.
PMID 15164053 · PMC2734081 · Nature · 2004 · 8 claims · 8 setups
The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs, representing >99.6% of the region.
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Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
PMID 17895983 · PMC1976591 · PloS one · 2007 · 8 claims · 5 setups
Sequencing of complete mtDNA genomes in 23 pediatric patients identified 27 significant variants (12 novel, 15 known) associated with mitochondrial encephalomyopathies.
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A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups
NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay
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Non-imprinted allele-specific DNA methylation on human autosomes.
PMID 19958531 · PMC2812945 · Genome biology · 2009 · 8 claims · 7 setups
SNPs within CpG islands are associated with allele-specific DNA methylation differences between alleles.
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Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.
PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups
BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls
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Has reproduction · 62
Metatranscriptomics of the human oral microbiome during health and disease.
PMID 24692635 · PMC3977359 · mBio · 2014 · 8 claims · 8 setups
Disease-associated periodontal communities display conserved community-level metabolic gene expression profiles between patients, whereas the metabolic gene expression of individual species is highly variable between patients.
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Probing the cancer genome.
PMID 18492227 · PMC2441462 · Genome biology · 2008 · 8 claims · 8 setups
Combined Sanger and 454 pyrosequencing of MCF-7 BAC clones identified 157 PCR-confirmed translocation breakpoint junctions, including 10 in-frame junctions confirmed at the transcript level
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Metagenomic analysis of human diarrhea: viral detection and discovery.
PMID 18398449 · PMC2290972 · PLoS pathogens · 2008 · 8 claims · 7 setups
Micro-mass sequencing (minimal stool input, minimal purification, ~384 reads/sample) can detect known enteric viruses in diarrhea specimens
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Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
PMID 19862842 · PMC2830005 · Human mutation · 2009 · 8 claims · 6 setups
Mutations in HGD, which encodes homogentisate dioxygenase, cause AKU by blocking conversion of homogentisic acid to maleylacetoacetic acid in the tyrosine catabolic pathway
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.
PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups
No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed
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Has reproduction · 68
Complete Genome Sequencing of Lactobacillus plantarum ZLP001, a Potential Probiotic That Enhances Intestinal Epithelial Barrier Function and Defense Against Pathogens in Pigs.
PMID 30542296 · PMC6277807 · Frontiers in physiology · 2018 · 8 claims · 8 setups
The complete genome of L. plantarum ZLP001 comprises a single 3,164,369 bp circular chromosome (GC 44.65%) plus seven plasmids (A–G), encoding 3,264 protein-coding sequences.
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Has reproduction · 43
Integration of Dual Stress Transcriptomes and Major QTLs from a Pair of Genotypes Contrasting for Drought and Chronic Nitrogen Starvation Identifies Key Stress Responsive Genes in Rice.
PMID 34089405 · PMC8179884 · Rice (New York, N.Y.) · 2021 · 8 claims · 7 setups
N22 performs better under dual (low N + low water) stress owing to better root architecture, chlorophyll/porphyrin synthesis and oxidative stress management