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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Genetic analysis of MEFV gene pyrin domain in patients with Behçet's disease.
PMID 16951489 · PMC1592598 · Mediators of inflammation · 2006 · 6 claims · 2 setups
No deletion, insertion, or point mutations were found in the pyrin domain of the MEFV gene in any of the 54 Turkish BD patients analyzed.
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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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The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.
PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups
PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs
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Ancient adaptive evolution of the primate antiviral DNA-editing enzyme APOBEC3G.
PMID 15269786 · PMC479043 · PLoS biology · 2004 · 7 claims · 6 setups
APOBEC3G has been under strong, recurrent positive selection throughout primate evolution (~33 million years)
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'Genome design' model and multicellular complexity: golden middle.
PMID 17062620 · PMC1635334 · Nucleic acids research · 2006 · 8 claims · 8 setups
Intermediately expressed human genes are the longest genes genome-wide, in both coding and intronic sequence, longer than housekeeping or tissue-specific genes.
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Transduplication resulted in the incorporation of two protein-coding sequences into the turmoil-1 transposable element of C. elegans.
PMID 18842128 · PMC2572040 · Biology direct · 2008 · 8 claims · 6 setups
The Turmoil-1 transposable element in C. elegans incorporated two unrelated protein-coding sequences into its inverted terminal repeats (ITRs)
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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups
POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)
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Has reproduction · 71
Systematic and computational identification of Androctonus crassicauda long non-coding RNAs.
PMID 33633149 · PMC7907363 · Scientific reports · 2021 · 7 claims · 7 setups
A custom ECF pipeline identified 13,401 lncRNAs in the A. crassicauda transcriptome (12,642 novel, 759 known).
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Patterns of evolutionary constraints on genes in humans.
PMID 18840274 · PMC2587479 · BMC evolutionary biology · 2008 · 7 claims · 6 setups
BaseDiver, a novel framework integrating GERP score and derived allele frequency (DAF) at nonsynonymous coding SNPs, can classify GO functional categories by patterns of evolutionary constraint
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Has reproduction · 92
Telomere-to-telomere reference genome for Panax ginseng highlights the evolution of saponin biosynthesis.
PMID 38883331 · PMC11179851 · Horticulture research · 2024 · 8 claims · 8 setups
A telomere-to-telomere reference genome of P. ginseng was assembled (3.45 Gb, 24 chromosomes, 77266 protein-coding genes)
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Mutations of the beta- and gamma-catenin genes are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas.
PMID 11437403 · PMC2363927 · British journal of cancer · 2001 · 7 claims · 4 setups
β-catenin and γ-catenin gene mutations are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas
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Mutations in PIK3CA are infrequent in neuroblastoma.
PMID 16822308 · PMC1533846 · BMC cancer · 2006 · 8 claims · 6 setups
PIK3CA activating mutations are infrequent in human neuroblastoma (2.9%, 2/69 tumors)
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Novel gene and gene model detection using a whole genome open reading frame analysis in proteomics.
PMID 16646984 · PMC1557991 · Genome biology · 2006 · 8 claims · 4 setups
A six-frame genomic ORF translation used as an MS search database can detect novel peptides absent from standard protein databases, revealing incomplete genome annotation.
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Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
PMID 17940071 · PMC2990861 · Human reproduction (Oxford, England) · 2007 · 8 claims · 7 setups
A novel heterozygous V355M missense mutation in SF1 was identified in one boy with micropenis and testicular regression syndrome (bilateral anorchia)
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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups
Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy
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A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.
PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups
A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.
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Visualizing the genome: techniques for presenting human genome data and annotations.
PMID 12149135 · PMC119855 · BMC bioinformatics · 2002 · 8 claims · 4 setups
Web-based client-server genome browsers (e.g., LocusLink evidence viewer, UCSC genome browser) are limited by lack of true interactivity, requiring server round-trips for navigation
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NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins.
PMID 15608248 · PMC539979 · Nucleic acids research · 2005 · 7 claims · 5 setups
RefSeq provides a curated, non-redundant, explicitly linked collection of genomic, transcript and protein sequences spanning prokaryotes, eukaryotes and viruses.
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MODBASE: a database of annotated comparative protein structure models and associated resources.
PMID 16381869 · PMC1347422 · Nucleic acids research · 2006 · 8 claims · 7 setups
MODBASE is a database of automatically calculated comparative protein structure models covering all UniProt sequences matchable to a known structure
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Systematic analysis of human kinase genes: a large number of genes and alternative splicing events result in functional and structural diversity.
PMID 16351747 · PMC1866387 · BMC bioinformatics · 2005 · 8 claims · 7 setups
Systematic in silico search identified 5 novel human kinase genes (on chromosomes 1, 11, 13, 15, 16) and 1 pseudogene (chromosome X) absent from KinBase