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).

• Contribution of retrotransposition to developmental disorders.

  PMID 31604926 · PMC6789007 · Nature communications · 2019 · 7 claims · 8 setups

  Has reproduction · 79

  De novo retrotransposition events, though rare, can be diagnostic causes of severe developmental disorders

  ddd overlapping ppg unaffected whole-exome bespoke whole-genome

• Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.

  PMID 15082894 · PMC2822302 · Journal of Korean medical science · 2004 · 8 claims · 4 setups

  Full-text index only

  Five unrelated Korean X-linked CGD patients each carry a distinct CYBB gene mutation: c.1663insT, c.1111-1G>T, c.39_40insG, c.927delC, and c.434T>C

  neutrophils genomic splice-site activated pcr-single sequencing