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).
-
Full-text index only
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups
Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P
-
Full-text index only
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.
PMID 19112531 · PMC2610290 · Molecular vision · 2008 · 8 claims · 4 setups
A novel STRA6 missense variant (p.G217E, exon 8) and a novel STRA6 nonsense variant (p.Q592X, exon 18) were identified in one A/M subject and absent from 89 controls, implicating STRA6 in this subject's A/M phenotype.
-
Full-text index only
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.
PMID 17655765 · PMC1950490 · BMC medical genetics · 2007 · 8 claims · 3 setups
No coding mutations were found in NR2E1 or SNX3 in five patients with MMEP or related phenotypes
-
Full-text index only
Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans.
PMID 18510744 · PMC2424074 · BMC genetics · 2008 · 7 claims · 4 setups
Sequencing the TPI1 locus in 357 German long-lived individuals identified 17 polymorphisms, 15 of which were rare and previously unknown
-
Full-text index only
MPromDb: an integrated resource for annotation and visualization of mammalian gene promoters and ChIP-chip experimental data.
PMID 16381984 · PMC1347458 · Nucleic acids research · 2006 · 8 claims · 5 setups
MPromDb is a novel database integrating experimentally supported gene promoters, TSS annotation, cis-regulatory elements, CpG islands, and ChIP-chip data with an integrated visualization interface.