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).

• Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

  PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups

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  Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age

  peripheral patients mody young-onset pcr microsatellite variant

• Sex differences in cancer risk among germline p53 mutation carriers.

  PMID 15280910 · PMC2409855 · British journal of cancer · 2004 · 6 claims · 3 setups

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  Cancer risk in germline p53 mutation carriers differs by sex, with females at higher risk than males in adulthood, was first reported by Chompret et al 2000, three years before a confirmatory study by Hwang et al 2003 claimed similar findings without citing the earlier work.

  children first-degree p53 germline family-based

• Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

  PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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  Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients

  genomic unaffected pcr targeted restriction

• Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

  PMID 17576681 · PMC1934990 · Nucleic acids research · 2007 · 8 claims · 4 setups

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  Cryptic 5'ss are best predicted by computational algorithms that accommodate nucleotide dependencies (e.g., Markov model, maximum entropy, maximum dependence decomposition) rather than by weight-matrix models

  disease mammalian compiled literature minigene computational

• DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

  PMID 18987736 · PMC2603574 · Nature · 2008 · 8 claims · 8 setups

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  Whole genome sequencing can identify unbiased, novel somatic mutations in a cytogenetically normal AML genome that would not have been found by candidate-gene resequencing.

  aml tumor novo additional genome snp comparative