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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A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.
PMID 18234697 · PMC2577762 · Brain : a journal of neurology · 2008 · 8 claims · 7 setups
Five different pathogenic GRN mutations (frameshift/premature termination) were identified in 25 affected members of a large UK FTLD cohort, with no whole-gene deletions detected
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Of brain and bone: the unusual case of Dr. A.
PMID 20183548 · PMC2997763 · Neurocase · 2009 · 7 claims · 8 setups
Dr. A's EXT2 mutation may play a role in the pattern of neurodegeneration seen in his FTD, given that Ext1-knockout mice show CNS defects including loss of olfactory bulbs and abnormally small cerebral cortex
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Incorporating genetics and genomics in risk assessment for inhaled manganese: from data to policy.
PMID 19646473 · PMC2765692 · Neurotoxicology · 2009 · 8 claims · 7 setups
Inhaled manganese bypasses normal homeostatic regulation and can accumulate in the brain, unlike dietary manganese which is readily excreted
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Progressive nonfluent aphasia associated with a new mutation V363I in tau gene.
PMID 17712160 · PMC10846119 · American journal of Alzheimer's disease and other dementias · 2007 · 7 claims · 5 setups
A novel heterozygous MAPT mutation (2274 G→A, exon 12, causing V363I) was identified in the proband, 2 of 3 tested children, and 1 sibling, but not in 194 healthy control individuals from the same population.