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 novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.
PMID 18518985 · PMC2435521 · BMC medical genetics · 2008 · 7 claims · 6 setups
A novel heterozygous WFS1 mutation c.2054G>C (p.R685P) segregates faithfully with dominant LFSNHL in an American family
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Sequence occurrence and structural uniqueness of a G-quadruplex in the human c-kit promoter.
PMID 17720713 · PMC2034477 · Nucleic acids research · 2007 · 8 claims · 4 setups
The native 22-nt c-kit87 sequence occurs only once in the entire human genome.
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Net positive charge of HIV-1 CRF01_AE V3 sequence regulates viral sensitivity to humoral immunity.
PMID 18787705 · PMC2527523 · PloS one · 2008 · 8 claims · 5 setups
Reduction in V3's net positive charge makes V3 less variable due to limited positive selection
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The key role of genomics in modern vaccine and drug design for emerging infectious diseases.
PMID 19855822 · PMC2752168 · PLoS genetics · 2009 · 8 claims · 8 setups
Reverse vaccinology (in silico genome screening for surface/secreted proteins) can identify vaccine candidates far faster than conventional approaches, as demonstrated by the MenB project.
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The Proteomic Code: a molecular recognition code for proteins.
PMID 17999762 · PMC2206014 · Theoretical biology & medical modelling · 2007 · 8 claims · 8 setups
The Proteomic Code is a set of rules by which genetic information is transferred into the physico-chemical properties of amino acids, determining protein-protein interactions and folding; it is part of the redundant Genetic Code.
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Opportunities and challenges in synthetic oligosaccharide and glycoconjugate research.
PMID 20161474 · PMC2794050 · Nature chemistry · 2009 · 8 claims · 7 setups
A parallel combinatorial one-pot multi-step protecting-group procedure (Lewis acid catalyzed, up to seven steps) can transform tetra-O-TMS glucopyranosides into differentially protected monosaccharide building blocks without intermittent work-up/purification
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Has reproduction · 67
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
PMID 41056017 · PMC12646653 · The Journal of clinical investigation · 2025 · 8 claims · 8 setups
Heterozygous CDKL1 missense variants (Cys143Arg, Ser206Leu, Thr135Met) were identified in 6 patients from 3 families with TAAD spectrum disorders
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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
PMID 18992264 · PMC2682550 · Mutation research · 2009 · 8 claims · 8 setups
A combined functional assay, bioinformatics prediction, and structural modeling approach can classify BRCA1 variants of uncertain significance
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Global sequencing of proteolytic cleavage sites in apoptosis by specific labeling of protein N termini.
PMID 18722006 · PMC2566540 · Cell · 2008 · 7 claims · 8 setups
A subtiligase-based N-terminal biotinylation and enrichment method enables global identification and sequencing of protease cleavage sites in complex mixtures
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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups
A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family
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Genetic variation at hair length candidate genes in elephants and the extinct woolly mammoth.
PMID 19747392 · PMC2754481 · BMC evolutionary biology · 2009 · 8 claims · 5 setups
The coding sequence of FGF5 is not the critical determinant of hair length differences among elephantids, including the woolly mammoth.
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Human genomic diversity, viral genomics and proteomics, as exemplified by human papillomaviruses and H5N1 influenza viruses.
PMID 19706363 · PMC3525194 · Human genomics · 2009 · 8 claims · 6 setups
A novel HPV type (HPV-85) was identified and phylogenetically characterized, showing closest relatedness to HPV-70/39/18/45/59 within the A7 genital HPV group
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Has reproduction · 74
Exploring candidate genes for pericarp russet pigmentation of sand pear (Pyrus pyrifolia) via RNA-Seq data in two genotypes contrasting for pericarp color.
PMID 24400075 · PMC3882208 · PloS one · 2014 · 8 claims · 5 setups
RNA-seq-based bulked segregant analysis of russet- vs green-pericarp F1 pools identified 29,100 unigenes, 206 of which were significantly differentially expressed (|log2 fold change| > 1).
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Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups
Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.
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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups
Mutations in GLE1, an mRNA export mediator, cause LCCS1