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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Classification of real and pseudo microRNA precursors using local structure-sequence features and support vector machine.
PMID 16381612 · PMC1360673 · BMC bioinformatics · 2005 · 7 claims · 7 setups
A 32-dimensional triplet structure-sequence feature vector combined with SVM (triplet-SVM) can distinguish real human pre-miRNAs from pseudo pre-miRNA hairpins with ~90% accuracy.
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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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GenBank.
PMID 18940867 · PMC2686462 · Nucleic acids research · 2009 · 8 claims · 4 setups
GenBank is a comprehensive public database of nucleotide sequences with bibliographic and biological annotation, growing exponentially with a current doubling time of ~30 months.
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Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.
PMID 18660851 · PMC2483297 · Molecular vision · 2008 · 8 claims · 6 setups
The four affected siblings are compound heterozygotes for two novel WFS1 mutations, one from each parent, causing Wolfram syndrome.
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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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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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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups
c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one
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Large-scale structural analysis of the core promoter in mammalian and plant genomes.
PMID 16049029 · PMC1181242 · Nucleic acids research · 2005 · 8 claims · 7 setups
DNA encodes at least two independent levels of functional information: protein/TF-binding sequence information and physical/structural properties of the molecule itself.
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Evolution of variants of yeast site-specific recombinase Flp that utilize native genomic sequences as recombination target sites.
PMID 17003057 · PMC1635253 · Nucleic acids research · 2006 · 8 claims · 8 setups
Stepwise directed evolution using chimeric FLRT (FRT/genomic hybrid) intermediate sites can generate Flp variants capable of recombining native genomic FRT-like sequences from the human IL10 gene (FL-IL10A, FL-IL10B).
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Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.
PMID 19078957 · PMC2696133 · Nature · 2009 · 8 claims · 8 setups
GNAQ is frequently somatically mutated in blue nevi (83%) and uveal melanoma (46%)
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Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups
Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair
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More biology from the sequence.
PMID 11532209 · PMC138951 · Genome biology · 2001 · 8 claims · 8 setups
The Schizosaccharomyces pombe genome has been sequenced to completion with no gaps, telomere to telomere.