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).

• Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.

  PMID 11207042 · PMC2363770 · British journal of cancer · 2001 · 8 claims · 4 setups

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  FAMA using large bifluorescent amplicons (avg 1.2 kb) with chemical cleavage of mismatch, combined with DGGE for 9 small exons, allows sensitive, unbiased scanning of the entire BRCA2 coding sequence with few amplicons (15 FAMA + 9 DGGE)

  genomic pcr fluorescence-assisted denaturing pcr

• Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.

  PMID 17298666 · PMC1805452 · BMC neurology · 2007 · 8 claims · 8 setups

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  Four unrelated NA patients show a novel erythrocyte membrane defect: 4.1R protein deficiency

  erythrocyte genomic peripheral erythrocytes sds-page non-denaturing direct

• A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

  PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups

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  A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family

  affected family blood frmd7 microsatellite direct denaturing

• A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

  PMID 17392686 · PMC2642918 · Molecular vision · 2007 · 8 claims · 5 setups

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  A novel COL1A1 nonsense mutation (Q644X, C2464T in exon 36) causes osteogenesis imperfecta type I in this Chinese family

  patients family genomic clinical microsatellite two-point