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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Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
PMID 19093009 · PMC2603250 · Molecular vision · 2008 · 8 claims · 6 setups
OCT detects foveal and lamellar macular retinoschisis more frequently than funduscopy alone
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Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.
PMID 18728755 · PMC2519029 · Molecular vision · 2008 · 8 claims · 5 setups
Male patients exhibit typical bilateral foveal retinoschisis in two retinal layers detected by OCT
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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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A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups
A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients
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Telomere-to-telomere assembly of a complete human X chromosome.
PMID 32663838 · PMC7484160 · Nature · 2020 · 8 claims · 8 setups
Produced the first gapless, telomere-to-telomere assembly of a human chromosome (the X chromosome) using the CHM13 cell line