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 novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups
A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred
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Investigations on a clinically and functionally unusual and novel germline p53 mutation.
PMID 12085209 · PMC2746598 · British journal of cancer · 2002 · 8 claims · 7 setups
A novel germline 7 base pair insertion in exon 5 of p53 (causing frameshift from codon 161 with a stop at codon 182) was identified in a patient with osteosarcoma at age 22 and choroid plexus papilloma at age 29.
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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups
c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one
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Genomic profiling of microRNA and messenger RNA reveals deregulated microRNA expression in prostate cancer.
PMID 18676839 · PMC2597340 · Cancer research · 2008 · 8 claims · 7 setups
MicroRNA processing components (Dicer, DGCR8) and microRNA host genes (MCM7, C9orf5) are significantly up-regulated in prostate tumors versus non-tumor tissue
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Identification of direct regulatory targets of the transcription factor Sox10 based on function and conservation.
PMID 18786246 · PMC2556353 · BMC genomics · 2008 · 6 claims · 6 setups
PLP, Sox10, SOD3, and Ptn are direct regulatory targets of Sox10, confirmed by chromatin immunoprecipitation binding to conserved cis-elements