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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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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Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.
PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups
No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers
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Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.
PMID 17134502 · PMC1684248 · BMC medical genetics · 2006 · 8 claims · 8 setups
An intragenic deletion of 3,059 bp within the PITX2 gene, spanning the end of exon 5 through the start of exon 6, causes this family's severe ARS phenotype
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Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups
The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.
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The evolution and genomic landscape of CGB1 and CGB2 genes.
PMID 17055150 · PMC2599907 · Molecular and cellular endocrinology · 2007 · 8 claims · 5 setups
CGB1 and CGB2 arose via insertion of a DNA fragment (736/724 bp) replacing part of the ancestral hCGβ promoter and 5'-UTR, creating a novel exon 1 and causing a frameshift that produces a completely different 132-aa protein unrelated to hCGβ
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The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.
PMID 17031395 · PMC2360566 · British journal of cancer · 2006 · 8 claims · 8 setups
MYH-associated colorectal cancers can develop through either a chromosomal instability pathway or a microsatellite instability (MSI) pathway, contradicting the assumption that these are mutually exclusive.
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Design factors that influence PCR amplification success of cross-species primers among 1147 mammalian primer pairs.
PMID 17029642 · PMC1635982 · BMC genomics · 2006 · 8 claims · 7 setups
The number of index-species (IS) mismatches in a primer pair significantly reduces amplification success, with an estimated 6-8% decrease in success rate per additional mismatch.
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Recurrent KRAS codon 146 mutations in human colorectal cancer.
PMID 16969076 · PMC2714972 · Cancer biology & therapy · 2006 · 8 claims · 8 setups
KRAS A146 missense mutations are a recurrent, previously unrecognized class of somatic mutation in colorectal cancer
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Genetic and epigenetic changes in primary metastatic and nonmetastatic colorectal cancer.
PMID 16969349 · PMC2360724 · British journal of cancer · 2006 · 8 claims · 8 setups
K-Ras codon 12 mutations are significantly associated with metastatic (M+) CRC
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Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients: effect of ecNOS polymorphism on left ventricular hypertrophy.
PMID 16923191 · PMC1559722 · Cardiovascular ultrasound · 2006 · 7 claims · 4 setups
ecNOS4a/b gene polymorphism is not associated with hypertension in Turkish patients
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Genomic sequencing of the severe acute respiratory syndrome-coronavirus.
PMID 16916263 · PMC7121524 · Methods in molecular biology (Clifton, N.J.) · 2006 · 7 claims · 7 setups
PCR-based amplification and direct sequencing of SARS-CoV genome fragments is feasible from uncultured clinical specimens (serum, nasopharyngeal aspirate, stool), avoiding culture-derived artifacts and biohazard risk.
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Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.
PMID 16847467 · PMC3099416 · The pharmacogenomics journal · 2007 · 8 claims · 6 setups
NAT2 variants are homogeneously distributed across native populations of the American continent
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Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.
PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups
The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD
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Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population.
PMID 16778401 · PMC2729963 · Journal of Korean medical science · 2006 · 6 claims · 5 setups
Genetic polymorphisms of the GABA A α1 and α6 receptor genes are significantly associated with alcohol dependence, surviving Bonferroni correction.
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JAK2 V617F: a single mutation in the myeloproliferative group of disorders.
PMID 16755940 · PMC1891745 · The Ulster medical journal · 2006 · 8 claims · 8 setups
A single acquired JAK2 mutation (V617F, G1849T in exon 14) is found across polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis
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Comparative genomic mapping of the bovine Fragile Histidine Triad (FHIT) tumour suppressor gene: characterization of a 2 Mb BAC contig covering the locus, complete annotation of the gene, analysis of cDNA and of physiological expression profiles.
PMID 16719907 · PMC1513570 · BMC genomics · 2006 · 8 claims · 5 setups
A 2 Mb BAC contig of 78 clones was assembled covering the entire bovine FHIT locus
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Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups
Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing
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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups
A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.
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Detection of atovaquone-proguanil resistance conferring mutations in Plasmodium falciparum cytochrome b gene in Luanda, Angola.
PMID 16597338 · PMC1513587 · Malaria journal · 2006 · 6 claims · 4 setups
No pfcytb mutations associated with atovaquone-proguanil treatment failure (codon 268 wild type, T802A, A803C) were found in the Luanda study population.
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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.