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 variation of SARS coronavirus in Beijing Hospital.
PMID 15200810 · PMC3323231 · Emerging infectious diseases · 2004 · 8 claims · 4 setups
113 sequence variations at 9 recurrent variant sites were identified in 29 full-length S-gene sequences compared to the BJ01 reference strain
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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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Genomic signatures of human versus avian influenza A viruses.
PMID 17073083 · PMC3294750 · Emerging infectious diseases · 2006 · 8 claims · 6 setups
52 validated 'species-associated' amino acid positions distinguish human from avian influenza A viruses
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Molecular epidemiology of measles viruses in the United States, 1997-2001.
PMID 12194764 · PMC2732556 · Emerging infectious diseases · 2002 · 8 claims · 6 setups
The diversity of measles virus genotypes observed in the US from 1997–2001 reflects multiple imported sources of virus, indicating no strain of measles is endemic in the United States.
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Tissue microarrays characterise the clinical significance of a VEGF-A protein expression signature in gastrointestinal stromal tumours.
PMID 17299397 · PMC2360083 · British journal of cancer · 2007 · 8 claims · 5 setups
A combined VEGF-A ligand and flt-1 receptor protein expression signature discriminates malignant from benign GIST
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A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups
A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family
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Sequencing of 16S rRNA gene: a rapid tool for identification of Bacillus anthracis.
PMID 12396926 · PMC2730316 · Emerging infectious diseases · 2002 · 7 claims · 4 setups
All 86 B. anthracis isolates tested share an identical 16S rRNA gene sequence, designated 16S type 6
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Genome-wide diversity and selective pressure in the human rhinovirus.
PMID 17477878 · PMC1892812 · Virology journal · 2007 · 7 claims · 6 setups
Whole genome and subgenomic phylogenies of HRV are essentially identical at every locus, indicating consistent phylogenetic patterns across the genome.
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Synonymous substitution rates predict HIV disease progression as a result of underlying replication dynamics.
PMID 17305421 · PMC1797821 · PLoS computational biology · 2007 · 8 claims · 8 setups
The synonymous substitution rate (dS) of HIV env is strongly correlated with disease progression parameters (progression time, CD4+ decline rate, viral load increase rate), unlike the nonsynonymous rate (dN).
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A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.
PMID 19052653 · PMC2592999 · Molecular vision · 2008 · 7 claims · 4 setups
PITX2 is considered the major causative gene for full-spectrum Axenfeld-Rieger syndrome.
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Has reproduction · 43
TransFlow: a Snakemake workflow for transmission analysis of Mycobacterium tuberculosis whole-genome sequencing data.
PMID 36469333 · PMC9825751 · Bioinformatics (Oxford, England) · 2023 · 8 claims · 8 setups
TransFlow is a Snakemake- and Conda-based workflow that combines state-of-the-art tools into a single, fast, scalable pipeline for MTBC WGS-based transmission analysis.
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A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.
PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups
The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals
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A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups
A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred
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Genotype differences in cognitive functioning in Noonan syndrome.
PMID 19077116 · PMC2760992 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups
Genotype differences account for some of the variation in cognitive ability in Noonan syndrome
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Apolipoprotein A-IV, a putative satiety/antiatherogenic factor, rises after gastric bypass.
PMID 18948973 · PMC2627784 · Obesity (Silver Spring, Md.) · 2009 · 6 claims · 7 setups
Apolipoprotein A-IV (apo A-IV) is significantly increased in fasting plasma after RYGBP compared to pre-operative levels
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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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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups
Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21
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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups
R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity
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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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Genetic determinants of virulence in pathogenic lineage 2 West Nile virus strains.
PMID 18258114 · PMC2600181 · Emerging infectious diseases · 2008 · 8 claims · 7 setups
The nonstructural genes, especially NS5, are the most variable regions between highly and less neuroinvasive lineage 2 WNV strains