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).

• The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

  PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups

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  NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots

  blood-derived lymphocytes blood unrelated genomic rt-pcr microsatellite

• Chromosomal phenotypes and submicroscopic abnormalities.

  PMID 15601540 · PMC3525070 · Human genomics · 2004 · 8 claims · 8 setups

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  Microdeletion syndromes are flanked by region-specific low-copy repeats (LCRs), and non-allelic homologous recombination (NAHR) between these LCRs, via interchromosomal or intrachromosomal mechanisms, causes the deletions.

  patients parents vegf164 zebrafish breakpoint parental inversion

• Pathogenesis of vestibular schwannoma in ring chromosome 22.

  PMID 19772601 · PMC2758865 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  Tumours in ring chromosome 22 patients arise from the combination of loss of the ring chromosome (first hit) and a pathogenic somatic NF2 mutation on the remaining chromosome 22 (second hit)

  peripheral schwann skin-biopsy vestibular karyotyping fish array