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).

• KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

  PMID 18797286 · PMC2743278 · Current opinion in otolaryngology & head and neck surgery · 2008 · 8 claims · 8 setups

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  KCNQ4 mutations at the DFNA2 locus on chromosome 1p34 cause autosomal dominant nonsyndromic progressive sensorineural hearing loss

  seven-generation dfna2 xenopus kcnq4 linkage mutation heterologous

• 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

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  Homozygous SLC4A1 Ser667Phe mutation causes both hereditary spherocytosis and incomplete distal renal tubular acidosis in the proband

  erythrocyte genomic erythrocytes xenopus sds-page sscp dids

• Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

  PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups

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  Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1

  family genomic xenopus patients genome-wide pcr glucose