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 Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).
PMID 15716625 · PMC2808567 · Journal of Korean medical science · 2005 · 8 claims · 6 setups
A 13-year-old boy and five affected relatives across three generations with hypokalemic periodic paralysis carry the R1239G mutation in CACNA1S
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Macrophage migration inhibitory factor and autism spectrum disorders.
PMID 18676531 · PMC3816765 · Pediatrics · 2008 · 8 claims · 4 setups
Functional MIF promoter polymorphisms (-794 CATT repeat and -173 G/C SNP) are genetically associated with ASD, particularly with stereotypical/repetitive behavior components
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Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.
PMID 18174378 · PMC2605348 · Blood · 2008 · 7 claims · 8 setups
Homozygous SLC4A1 Ser667Phe mutation causes both hereditary spherocytosis and incomplete distal renal tubular acidosis in the proband
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A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
PMID 16968799 · PMC1865483 · The Journal of clinical endocrinology and metabolism · 2006 · 7 claims · 8 setups
A homozygous R262Q GNRHR mutation was identified in two brothers from an Asian Indian family, one of 11 families studied with delayed puberty or discordant IHH/delayed puberty siblings.