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 MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Functional analysis of human mutations in homeodomain transcription factor PITX3.
PMID 17888164 · PMC2093940 · BMC molecular biology · 2007 · 7 claims · 5 setups
Both S13N and G219fs mutants show partial loss-of-function in DNA-binding and/or transactivation activity, with G219fs more severely affected than S13N
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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
PMID 18992264 · PMC2682550 · Mutation research · 2009 · 8 claims · 8 setups
A combined functional assay, bioinformatics prediction, and structural modeling approach can classify BRCA1 variants of uncertain significance
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Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).
PMID 16412238 · PMC1368963 · BMC medical genetics · 2006 · 8 claims · 6 setups
A novel PPARG nonsense mutation, Y355X, was identified in a mother and daughter with FPLD3-consistent phenotypes and was absent from unaffected relatives and 260 healthy controls
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Genomic and proteomic profiling of oxidative stress response in human diploid fibroblasts.
PMID 18654835 · PMC4973579 · Biogerontology · 2009 · 8 claims · 7 setups
Treatment of HCA3 human diploid fibroblasts with a mild dose of H2O2 (600 μM) induces premature senescence without killing the cells.
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A search for structurally similar cellular internal ribosome entry sites.
PMID 17591613 · PMC1950536 · Nucleic acids research · 2007 · 8 claims · 7 setups
Cellular IRES are not defined by an overall conserved structure (unlike viral IRES) but instead depend on short RNA motifs and shared trans-acting factors (ITAFs)