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).
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An original SERPINA3 gene cluster: elucidation of genomic organization and gene expression in the Bos taurus 21q24 region.
PMID 18384666 · PMC2373789 · BMC genomics · 2008 · 8 claims · 7 setups
The bovine genome contains a cluster of eight SERPINA3 genes and one pseudogene (SERPINA3P) sharing high sequence identity and identical structural organization
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
PMID 16919418 · PMC2842930 · Genomics · 2006 · 8 claims · 8 setups
Human FXN YAC transgenes containing GAA repeat expansions (YG22, YG8) rescue the embryonic lethality of homozygous Fxn knockout mice
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Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups
Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).
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Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.
PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups
A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members