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).

• A case of Birt-Hogg-Dubé syndrome.

  PMID 18437022 · PMC2526433 · Journal of Korean medical science · 2008 · 6 claims · 3 setups

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  A novel deletion mutation (p.F519LfsX17 [c.1557delT]) in exon 14 of the BHD (FLCN) gene causes a truncated folliculin protein and is the cause of Birt-Hogg-Dubé syndrome in this patient

  skin chest genomic histopathology computed pcr

• A novel mutation in the SH3BP2 gene causes cherubism: case report.

  PMID 17147794 · PMC1764878 · BMC medical genetics · 2006 · 6 claims · 6 setups

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  A novel A1517G base change in exon 9 of SH3BP2, causing a D419G amino acid substitution, is the disease-causing mutation in this cherubism family.

  genomic proband patients jaw direct pcr computed

• Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

  PMID 16778407 · PMC2729969 · Journal of Korean medical science · 2006 · 7 claims · 8 setups

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  The patient was diagnosed with cystic fibrosis based on elevated sweat chloride concentration and identification of two CFTR mutations.

  korean forearm patient's lungs direct quantitative family