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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Has reproduction · 79
Contribution of retrotransposition to developmental disorders.
PMID 31604926 · PMC6789007 · Nature communications · 2019 · 7 claims · 8 setups
De novo retrotransposition events, though rare, can be diagnostic causes of severe developmental disorders
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Has reproduction · 78
Genomics Define Malignant Transformation in Myeloma Precursor Conditions.
PMID 41061199 · PMC12614327 · Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026 · 7 claims · 5 setups
Genomic profiling can identify malignant transformation in MGUS/SMM patients, distinguishing 'genomic MM' from 'genomic MGUS' despite identical clinical/morphologic presentation
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Has reproduction · 83
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
PMID 24781758 · PMC4297901 · European journal of human genetics : EJHG · 2015 · 5 claims · 2 setups
A novel homozygous 2-bp deletion c.1160_1161delCA (p.(Thr387Argfs*30)) in AP4B1 was identified in two siblings with severe ID, absent speech, microcephaly, growth retardation, and progressive spastic tetraplegia
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Has reproduction · 83
Current status of use of high throughput nucleotide sequencing in rheumatology.
PMID 33408124 · PMC7789458 · RMD open · 2021 · 8 claims · 8 setups
RNA-Seq is the most represented HTS assay used in rheumatology research, primarily for biomarker identification in blood or synovial tissue.