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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Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers.
PMID 9823979 · PMC2063196 · British journal of cancer · 1998 · 6 claims · 4 setups
No somatic point mutations were found in the entire EB1 coding sequence in sporadic colorectal cancers or adenomas
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Defective DNA repair and increased genomic instability in Artemis-deficient murine cells.
PMID 12615897 · PMC2193825 · The Journal of experimental medicine · 2003 · 8 claims · 8 setups
Artemis-deficient ES cells are severely impaired in VDJ coding joining but retain relatively normal RS (signal) joining
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Genetic diversity and distribution of Peromyscus-borne hantaviruses in North America.
PMID 10081674 · PMC2627704 · Emerging infectious diseases · 1999 · 8 claims · 5 setups
SNV-like hantaviruses are widely distributed in Peromyscus species rodents throughout North America
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Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups
The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.
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Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.
PMID 16429166 · PMC1342637 · PLoS genetics · 2005 · 8 claims · 5 setups
PANTHER subPSEC scores correctly predicted the functional impact of >94% (16/17) of tested naturally occurring ABCA1 variants
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Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.
PMID 10389976 · PMC2363023 · British journal of cancer · 1999 · 6 claims · 4 setups
No MEN1 coding-region mutations were detected in any of 23 sporadic pituitary tumours with 11q13 LOH, arguing against MEN1 mutation as the mechanism of tumorigenesis in these cases
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Eighth major clade for hepatitis delta virus.
PMID 17073101 · PMC3294742 · Emerging infectious diseases · 2006 · 7 claims · 7 setups
Three HDV isolates (dFr644, dFr2072, dFr2736) form a monophyletic group distinct from HDV-1 through HDV-7, constituting a new eighth major clade (HDV-8) of the Deltavirus genus.
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Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?
PMID 16983454 · PMC6275806 · Cellular & molecular biology letters · 2006 · 7 claims · 7 setups
Human FKBP6 expression is restricted to the testis among 15 adult tissues examined
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Genome microevolution of chikungunya viruses causing the Indian Ocean outbreak.
PMID 16700631 · PMC1463904 · PLoS medicine · 2006 · 8 claims · 6 setups
The Indian Ocean outbreak was initiated by a strain related to East African CHIKV isolates, which subsequently evolved via a traceable microevolution history
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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups
A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).
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Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.
PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups
Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed
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Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups
Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).
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Genetic characterization of 2006-2008 isolates of Chikungunya virus from Kerala, South India, by whole genome sequence analysis.
PMID 19851853 · PMC7088544 · Virus genes · 2010 · 8 claims · 7 setups
37 novel mutations were identified across the six sequenced CHIKV genomes, predominantly in 2007 and 2008 isolates
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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
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The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups
NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots
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Genetic and biochemical studies in Argentinean patients with variegate porphyria.
PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups
All 18 studied VP patients harbored PPOX gene mutations in heterozygous state
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Rare-type mutations of MMAC1 tumor suppressor gene in human glioma cell lines and their tumors of origin.
PMID 10551321 · PMC5926156 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 6 setups
6 of 10 glioma cell lines examined showed MMAC1 mutations with presumed loss of heterozygosity (LOH)
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Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.
PMID 16280053 · PMC1410737 · Breast cancer research : BCR · 2005 · 8 claims · 8 setups
There is no evidence that highly penetrant exonic or splice site mutations in FANCD2, BRIP1/BACH1, LMO4 or SFN contribute to familial breast cancer
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Molecular phylogeny of the antiangiogenic and neurotrophic serpin, pigment epithelium derived factor in vertebrates.
PMID 17020603 · PMC1609119 · BMC genomics · 2006 · 8 claims · 8 setups
A single PEDF gene is present in all examined vertebrate species but is absent from invertebrates (D. melanogaster, C. elegans, C. intestinalis)
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EGASP: Introduction.
PMID 16925831 · PMC1810546 · Genome biology · 2006 · 8 claims · 5 setups
Computational gene finding methods, when compared to the GENCODE golden standard annotation, show that the human genome annotation is nearly complete in terms of novel protein-coding loci.