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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Leber's hereditary optic neuropathy--case report and literature review.
PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups
Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON
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A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups
A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family
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Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups
Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair
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Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
PMID 17615541 · PMC2768756 · Molecular vision · 2007 · 8 claims · 4 setups
Eleven different RS1 mutations were identified in 12 Chinese XLRS families, including four novel mutations (26delT, 488delG, Asp145His, Arg156Gly).