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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Comparative mapping of expressed sequence tags containing microsatellites in rainbow trout (Oncorhynchus mykiss).
PMID 15836796 · PMC1090573 · BMC genomics · 2005 · 8 claims · 7 setups
89 polymorphic microsatellite markers were developed from rainbow trout EST-derived cDNA clones
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Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.
PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups
Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded
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A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups
The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541
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Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.
PMID 16569242 · PMC1444927 · BMC medical genetics · 2006 · 7 claims · 4 setups
Linkage and haplotype analysis in the South African family are highly suggestive of linkage to the ARVC6 locus on chromosome 10p12-p14
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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups
Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples
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A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.
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A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups
A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family
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Screening for microsatellite instability identifies frequent 3'-untranslated region mutation of the RB1-inducible coiled-coil 1 gene in colon tumors.
PMID 19888451 · PMC2766054 · PloS one · 2009 · 7 claims · 4 setups
Somatic mutation frequency (%MSI) of 3'UTR microsatellites in MSI-H colorectal tumors correlates significantly with microsatellite length (r=0.86, p=7.2×10−13), following an exponential growth model.
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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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A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.
PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.
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Population structure analyses and demographic history of the malaria vector Anopheles albimanus from the Caribbean and the Pacific regions of Colombia.
PMID 19922672 · PMC2789746 · Malaria journal · 2009 · 8 claims · 8 setups
Two distinctive COI haplotype groups were consistently detected, corresponding to the Caribbean and Pacific regions.
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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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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups
50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.
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Comprehensive transcriptome study to develop molecular resources of the copepod Calanus sinicus for their potential ecological applications.
PMID 24982883 · PMC4055022 · BioMed research international · 2014 · 8 claims · 8 setups
Illumina RNA-Seq with Trinity de novo assembly produced a C. sinicus transcriptome of 69,751 contigs (average 928.8 bp, N50 1,127 bp) from 58.9 million reads.
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A cell biological perspective on genome research.
PMID 8522596 · PMC2120688 · The Journal of cell biology · 1995 · 7 claims · 7 setups
Genome sequencing represents a sixth stage in the historical progression of structural biology (comparative anatomy through crystallography), and will be similarly valuable once related to function.
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Analysis of expressed sequence tags from Actinidia: applications of a cross species EST database for gene discovery in the areas of flavor, health, color and ripening.
PMID 18655731 · PMC2515324 · BMC genomics · 2008 · 7 claims · 6 setups
A collection of 132,577 ESTs from four Actinidia species was generated and clustered into 41,858 non-redundant clusters (18,070 TCs and 23,788 singletons)
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High mitochondrial DNA stability in B-cell chronic lymphocytic leukemia.
PMID 19924307 · PMC2775629 · PloS one · 2009 · 7 claims · 5 setups
mtDNA control-region instability is not the primary causal factor in B-CLL
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Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
PMID 19744353 · PMC2749023 · BMC medical genetics · 2009 · 8 claims · 6 setups
Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2
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Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups
Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P
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Integrative annotation of 21,037 human genes validated by full-length cDNA clones.
PMID 15103394 · PMC393292 · PLoS biology · 2004 · 8 claims · 5 setups
41,118 full-length human cDNAs from six high-throughput sequencing projects were exhaustively integratively characterized