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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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.
PMID 18997096 · PMC4836613 · Investigative ophthalmology & visual science · 2009 · 7 claims · 8 setups
High T8993C mutant load (>77%) is associated with severe neurologic and/or retinal abnormalities, while low mutant load (42-54%) causes no detectable abnormalities.
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Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.
PMID 11850598 · PMC3054831 · Journal of Korean medical science · 2002 · 7 claims · 5 setups
MELAS muscle shows strongly SDH-positive blood vessels (SSVs) and many COX-positive ragged-red fibers, while MERRF muscle shows neither SSVs nor COX-positive RRFs, giving distinct histochemical staining patterns between the two diseases.
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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups
21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.