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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N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.
PMID 18402670 · PMC2330028 · BMC medical genetics · 2008 · 7 claims · 6 setups
NAT8 is a novel positional candidate gene for blood pressure and renal function based on its chromosomal location within a BP linkage region and its expression in embryonic/adult kidney and liver
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
PMID 18704501 · PMC2525844 · Human genetics · 2008 · 6 claims · 5 setups
Next-generation (Roche/454) resequencing of 136 kb at 8q24 in 39 prostate cancer cases and 40 controls generated a comprehensive catalog of common SNPs (MAF>1%), including 442 novel SNPs
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X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa.
PMID 14641931 · PMC317313 · BMC pediatrics · 2003 · 7 claims · 5 setups
This is the first fully characterized South African family with X-linked hyper-IgM syndrome (HIGM1)
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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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Has reproduction · 81
An Erg-driven transcriptional program controls B cell lymphopoiesis.
PMID 32541654 · PMC7296042 · Nature communications · 2020 · 8 claims · 8 setups
Erg is essential for early B-cell development, with its loss causing developmental arrest at the pre–proB (Hardy fraction A-to-B) stage
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Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups
MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions
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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups
A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP