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).
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Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?
PMID 18557994 · PMC2481495 · Breast cancer research : BCR · 2008 · 8 claims · 8 setups
Mutation frequencies in ATM, BRIP1, PALB2 and CHEK2 are many times higher in women with strong breast cancer family history (familial cases) than in population controls.
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI
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Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.
PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups
The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.
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Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups
Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)