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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Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.
PMID 20160442 · PMC4432877 · Cells, tissues, organs · 2010 · 8 claims · 5 setups
A novel FAM83H nonsense mutation c.1374C>A (p.Y458X) in exon 5 is identified as the cause of AD hypocalcified amelogenesis imperfecta in this family
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High-throughput sequencing provides insights into genome variation and evolution in Salmonella Typhi.
PMID 18660809 · PMC2652037 · Nature genetics · 2008 · 7 claims · 8 setups
Evolution in the Typhi population is characterized by ongoing loss of gene function (pseudogene accumulation) rather than gain of function or diversifying selection.
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Prediction and assessment of splicing alterations: implications for clinical testing.
PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups
Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification
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Adapting to a changing world: RAG genomics and evolution.
PMID 16004728 · PMC3525258 · Human genomics · 2005 · 8 claims · 7 setups
RAG-1/RAG-2 origin is a foundational hallmark of adaptive immunity, enabling V(D)J recombination of antigen receptor genes.
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Molecular characterization of retinitis pigmentosa in Saudi Arabia.
PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups
The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.