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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nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms.
PMID 15980516 · PMC1160133 · Nucleic acids research · 2005 · 6 claims · 4 setups
nsSNPAnalyzer is a web server that predicts whether a query nsSNP is disease-associated or functionally neutral using a Random Forest classifier combining structural and evolutionary information
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Upgrades to StellaBase facilitate medical and genetic studies on the starlet sea anemone, Nematostella vectensis.
PMID 17982171 · PMC2238866 · Nucleic acids research · 2008 · 6 claims · 5 setups
StellaBase Disease houses homology data for 155,904 invertebrate isoforms of human disease genes across four model systems, including 14,874 predicted Nematostella genes
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Mutation analysis in primary immunodeficiency diseases: case studies.
PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups
Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results
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Has reproduction · 87
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups
Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals
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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups
A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls
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25th Annual San Antonio Breast Cancer Symposium, San Antonio, Texas, USA, 10-14 December 2002 Update on preclinical and translational research.
PMID 12631391 · PMC154153 · Breast cancer research : BCR · 2003 · 8 claims · 8 setups
Growth factor signalling (EGF/HER-2/MAPK, AKT) phosphorylates the oestrogen receptor and drives development of endocrine-resistant breast cancer