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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Triplex targeted genomic crosslinks enter separable deletion and base substitution pathways.
PMID 16186129 · PMC1236719 · Nucleic acids research · 2005 · 8 claims · 4 setups
Targeted pso-TFO genomic crosslinks resolve via genetically separable pathways leading to either base substitutions or deletions.
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Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
PMID 19122847 · PMC2585750 · Circulation. Arrhythmia and electrophysiology · 2008 · 7 claims · 5 setups
A missense R99H mutation in KCNE3 was identified in a Brugada Syndrome proband and cosegregates with the phenotype in the family (4/4 phenotype-positive, 0/3 phenotype-negative members carried it)
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Has reproduction · 75
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups
Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes
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Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.
PMID 20011602 · PMC2788243 · PloS one · 2009 · 8 claims · 8 setups
A novel heterozygous Trp1197Stop (W1197X) mutation in the ACE gene causes a 13-fold increase in blood ACE activity in an African-American family
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Characterization of a natural mutator variant of human DNA polymerase lambda which promotes chromosomal instability by compromising NHEJ.
PMID 19806195 · PMC2751832 · PloS one · 2009 · 8 claims · 8 setups
The W438 hPolλ variant has reduced base substitution fidelity in vitro compared to wild-type R438