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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The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.
PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups
The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.
PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups
A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent
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Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
PMID 18470323 · PMC2373796 · Molecular vision · 2008 · 7 claims · 4 setups
The R124C mutation (C417T) in exon 4 of TGFBI cosegregates with lattice corneal dystrophy type I in this Chilean family
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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).