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).

• alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.

  PMID 19684871 · PMC2726717 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 5 setups

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  SNTA1 is a new susceptibility gene for LQTS

  genotype-negative hek-293 neonatal mutational patch-clamp coimmunoprecipitation

• Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

  PMID 18626973 · PMC2570015 · Annals of neurology · 2008 · 8 claims · 8 setups

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  Clinical features of Dok-7 myasthenia are highly variable, ranging from mild static limb-girdle weakness to severe generalized progressive disease

  cms intercostal cryostat hek293t clinical microelectrode single-channel

• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

  PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups

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  Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C

  cmt2c affected spinal drg genetic sanger quantitative