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).

Publications 1.3k Datasets 392.5k Experiments 4

System / cell line: chest ✕ Assay: gene ✕ Clear

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups

Full-text index only

NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay

leukocyte peripheral serum plasma gene enzyme chitotriosidase
A case of Birt-Hogg-Dubé syndrome.

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

Full-text index only

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
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

Full-text index only

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
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups

Full-text index only

CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID

ebv-transformed genomic father peripheral intracellular snp sequencing

Experiments

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

A case of Birt-Hogg-Dubé syndrome.

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

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.