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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Human SNPs resulting in premature stop codons and protein truncation.
PMID 16595072 · PMC3500177 · Human genomics · 2006 · 8 claims · 6 setups
Genome-wide screening of dbSNP identified 28 validated X-SNPs from 28 genes with known minor allele frequencies.
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Interspecies diversity of the occludin sequence: cDNA cloning of human, mouse, dog, and rat-kangaroo homologues.
PMID 8601611 · PMC2120780 · The Journal of cell biology · 1996 · 8 claims · 7 setups
Full-length cDNAs encoding occludin were cloned and sequenced from rat-kangaroo (potoroo), human, mouse, and dog
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A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31.
PMID 11305939 · PMC31480 · Genome biology · 2001 · 8 claims · 8 setups
SLC4A9 is a novel human NBC-like gene on chromosome 5q31 encoding a 990-amino-acid, 12-transmembrane-domain protein with high similarity to other sodium bicarbonate cotransporters
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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 focused antibody library for selecting scFvs expressed at high levels in the cytoplasm.
PMID 18034894 · PMC2241821 · BMC biotechnology · 2007 · 7 claims · 7 setups
A human scFv library was built on the single scFv13R4 framework with CDR3 loops diversified to mimic natural human CDR3 amino-acid distributions.
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Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
PMID 19786220 · PMC3309400 · Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2009 · 7 claims · 5 setups
SLC26A4 mutations are highly prevalent in Chinese patients with SNHL and EVA, with mutations found in 100% (32/32) of subjects.
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Enhanced Bioremediation Potential of Shewanella decolorationis RNA Polymerase Mutants and Evidence for Novel Azo Dye Biodegradation Pathways.
PMID 35391736 · PMC8981235 · Frontiers in microbiology · 2022 · 8 claims · 8 setups
Unbiased RNAP (rpoB) mutation screening via rifampicin resistance is an effective method to obtain bacterial mutants with enhanced bioremediation activity
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups
Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)
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Molecular cloning and characterisation of the RESA gene, a marker of genetic diversity of Plasmodium falciparum.
PMID 19816792 · PMC2900597 · Molecular biology reports · 2010 · 8 claims · 8 setups
RESA was cloned from a P. falciparum Dd2 expression library screened with human immune sera, yielding a 1,336 bp insert with a 936 bp ORF encoding a 317-aa protein.
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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups
DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients
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Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups
Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age
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Mutation analysis of the AATF gene in breast cancer families.
PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups
No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk
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Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.
PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups
MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors
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An original SERPINA3 gene cluster: elucidation of genomic organization and gene expression in the Bos taurus 21q24 region.
PMID 18384666 · PMC2373789 · BMC genomics · 2008 · 8 claims · 7 setups
The bovine genome contains a cluster of eight SERPINA3 genes and one pseudogene (SERPINA3P) sharing high sequence identity and identical structural organization
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI
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Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.
PMID 18927607 · PMC2559870 · PloS one · 2008 · 8 claims · 5 setups
No pathogenic mutations were found in LRRK2, PRKN, or ATXN3 in a Nigerian cohort of apparently sporadic PD patients.
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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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Genome-wide signatures of convergent evolution in echolocating mammals.
PMID 24005325 · PMC3836225 · Nature · 2013 · 8 claims · 8 setups
Genome-wide convergent sequence evolution between echolocating lineages is not rare but widespread and continuously distributed, with signatures consistent with convergence in nearly 200 loci out of 2,326 examined.
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A novel GJA8 mutation causing a recessive triangular cataract.
PMID 18483562 · PMC2375854 · Molecular vision · 2008 · 8 claims · 6 setups
A homozygous single base-pair insertion (c.776insG) in GJA8 causes a recessive triangular nuclear cataract in two affected siblings.
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Timing constraints of in vivo gag mutations during primary HIV-1 subtype C infection.
PMID 19890401 · PMC2768328 · PloS one · 2009 · 7 claims · 7 setups
Reverse mutations to the wild type (HIV-1C consensus) in Gag appear significantly earlier than escape mutations from the wild type during primary infection