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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Mutation survey of known LCA genes and loci in the Saudi Arabian population.
PMID 18936139 · PMC2695987 · Investigative ophthalmology & visual science · 2009 · 7 claims · 4 setups
Mutations in the 13 known LCA genes were identified in only 24% (9/37) of Saudi Arabian LCA families, far lower than the ~65% mutation detection rate reported in European populations
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Large genomic rearrangements in the CFTR gene contribute to CBAVD.
PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups
Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening
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IgVH genes from different anatomical regions, with different histopathological patterns, of a rheumatoid arthritis patient suggest cyclic re-entry of mature synovial B-cells in the hypermutation process.
PMID 11056671 · PMC17813 · Arthritis research · 2000 · 8 claims · 5 setups
Somatically mutated IgVH genes with amino acid deletions and mixed IgV molecules were found in all three anatomical regions, suggesting a novel pathway for generating (auto)antibody specificities
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Description of a PCR-based technique for DNA splicing and mutagenesis by producing 5' overhangs with run through stop DNA synthesis utilizing Ara-C.
PMID 16137330 · PMC1208860 · BMC biotechnology · 2005 · 7 claims · 7 setups
Two adjacent Ara-C molecules incorporated into a PCR primer produce mild template-dependent polymerization termination, generating 5' overhangs usable for cohesive-end ligation.
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Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector.
PMID 17317684 · PMC1874629 · Nucleic acids research · 2007 · 7 claims · 7 setups
Gene-Collector is a method for multiplex nucleic acid amplification that specifically circularizes only correctly paired (cognate) PCR primer products on a Collector probe, degrading non-cognate artifacts by exonuclease treatment.
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DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia.
PMID 19102774 · PMC2630979 · BMC medical genetics · 2008 · 8 claims · 6 setups
Variation in SYN III distal CpG island methylation is not related to schizophrenia in the population sample or in a monozygotic twin pair discordant for schizophrenia
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Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
PMID 31913291 · PMC6949293 · Scientific data · 2020 · 6 claims · 7 setups
The Accel-Amplicon CFTR panel generates sequencing data with high coverage depth and near 100% on-target reads.
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K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.
PMID 9514049 · PMC2149957 · British journal of cancer · 1998 · 6 claims · 4 setups
K-ras codon 12 mutation is present in all carcinoma lesions examined with no intratumour heterogeneity, consistent with an early carcinogenic event
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Genetic variants of Ehrlichia phagocytophila, Rhode Island and Connecticut.
PMID 11996680 · PMC3369764 · Emerging infectious diseases · 2002 · 7 claims · 6 setups
All 50 E. phagocytophila-positive samples from Bridgeport, CT (1996-1998) had 16S rRNA sequences identical to the human agent (EP-ha).
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.
PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups
A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent
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Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).
PMID 19133980 · PMC4303606 · British journal of haematology · 2009 · 7 claims · 6 setups
Downregulation of GR mRNA in the resistant myeloma cell line is caused by a block to transcriptional elongation within intron B of the GR gene
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Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups
Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).
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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups
Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains
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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups
GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss
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PRLTS gene alterations in human prostate cancer.
PMID 9197531 · PMC5921422 · Japanese journal of cancer research : Gann · 1997 · 5 claims · 3 setups
LOH at the PRLTS gene locus is a relatively common abnormality in prostate cancer
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Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.
PMID 10027310 · PMC2362430 · British journal of cancer · 1999 · 8 claims · 6 setups
CDX2 expression is decreased in colorectal carcinomas in prior studies
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Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
PMID 17697348 · PMC2042502 · BMC genetics · 2007 · 8 claims · 5 setups
CTCE eliminates the need for laboratory optimization of separation conditions for each exonic target sequence.
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Human stool contains a previously unrecognized diversity of novel astroviruses.
PMID 19814825 · PMC2765957 · Virology journal · 2009 · 8 claims · 8 setups
Human stool contains a previously unrecognized diversity of astroviruses beyond the classic 8 serotypes and AstV-MLB1/AstV-VA1
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PCR-free method detects high frequency of genomic instability in prostate cancer.
PMID 19797393 · PMC2794161 · Nucleic acids research · 2009 · 7 claims · 6 setups
A novel PCR-free random cloning/sequencing method can detect genomic variants that PCR-based approaches miss in heterogeneous tumor genomes.
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Detection of point mutations associated with antibiotic resistance in Pseudomonas aeruginosa.
PMID 19656662 · PMC2744841 · International journal of antimicrobial agents · 2009 · 8 claims · 6 setups
Pyrosequencing™ can substitute for traditional sequencing methods, providing rapid (<1 h) and reliable detection of antibiotic resistance mutations in P. aeruginosa