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).

• Molecular epidemiology of DFNB1 deafness in France.

  PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups

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  35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations

  gjb2 dried genomic deaf dhplc pcr-mediated pcr-dhplc

• A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

  PMID 17233897 · PMC1784098 · BMC cancer · 2007 · 5 claims · 3 setups

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  A novel BRCA1 nonsense mutation, E1373X, in exon 12 was identified in a Palestinian Arab family with breast and ovarian cancer.

  leukocyte pcr genomic dhplc direct allele-specific

• Ankyrin-linked hereditary spherocytosis in an African-American kindred.

  PMID 18704959 · PMC11304496 · American journal of hematology · 2008 · 6 claims · 7 setups

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  A novel heterozygous initiator methionine mutation (ATG→ATA, Met1Ile), termed ankyrin New Haven, was identified in exon 1 of the ankyrin-1 gene as the cause of HS in this kindred.

  genomic erythrocyte rabbit dhplc sscp nucleotide

• Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

  PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups

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  Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases

  genomic pcr-amplified reep1 pcr dhplc direct

• Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations.

  PMID 18694524 · PMC2525636 · BMC biotechnology · 2008 · 8 claims · 4 setups

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  The mismatch-specific endonuclease method achieved 100% sensitivity and specificity for identifying HBB gene mutations in the study sample.

  genomic pcr mismatch-specific dhplc direct