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).

• Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

  PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups

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  MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments

  blood pkd1 pcr-purified genomic long nested-pcr mrf-sscp

• X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa.

  PMID 14641931 · PMC317313 · BMC pediatrics · 2003 · 7 claims · 5 setups

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  This is the first fully characterized South African family with X-linked hyper-IgM syndrome (HIGM1)

  activated pbmcs genomic pcr flow rt-pcr long-range

• Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation.

  PMID 18947387 · PMC2579299 · Molecular cancer · 2008 · 8 claims · 8 setups

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  A novel t(2;11)(q11.2;p15.1) translocation was identified as the sole cytogenetic abnormality in a childhood T-ALL case

  bone genomic da926692 g-banding fish vectorette

• Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.

  PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups

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  Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes

  colonic astrocytoma breast microdissected immunohistochemistry microsatellite truncation

• Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

  PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups

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  A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP

  peripheral genomic cdna truncation sscp d-hplc