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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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups
R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity
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Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups
Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series