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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Genome wide identification of recessive cancer genes by combinatorial mutation analysis.
PMID 18846217 · PMC2557123 · PloS one · 2008 · 7 claims · 4 setups
A combinatorial mutation analysis identified 154 candidate recessive cancer genes (pRecessiveCancer<1.5x10-7, FDR=0.39)
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Frequent p53 gene mutations in soft tissue sarcomas arising in burn scar.
PMID 10359041 · PMC5926059 · Japanese journal of cancer research : Gann · 1999 · 6 claims · 4 setups
p53 gene mutations occur at a high frequency in soft tissue sarcomas arising in burn scars
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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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Predicting positive p53 cancer rescue regions using Most Informative Positive (MIP) active learning.
PMID 19756158 · PMC2742196 · PLoS computational biology · 2009 · 8 claims · 4 setups
MIP active learning is a novel active learning method that preferentially seeks informative Positive (functionally active) examples rather than only maximizing classifier accuracy.
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Somatic mutations in mitochondria: the chicken or the egg?
PMID 16207343 · PMC1257449 · Arthritis research & therapy · 2005 · 6 claims · 6 setups
Patients with RA have a higher incidence of somatic mtDNA mutations (in MT-ND1 transcripts) in synoviocytes and synovial tissue compared with OA patients
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Eight previously unidentified mutations found in the OA1 ocular albinism gene.
PMID 16646960 · PMC1468396 · BMC medical genetics · 2006 · 7 claims · 5 setups
Sequencing of the nine OA1 exons in 72 individuals identified ten different mutations across seven unrelated families and three sporadic cases.
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Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastases.
PMID 15935100 · PMC1164406 · BMC cancer · 2005 · 8 claims · 4 setups
B-raf exon 15 somatic mutations occur in 24/60 (40%) of cutaneous/subcutaneous melanoma metastases, similar to the frequency in primary melanomas
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Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
PMID 17515881 · PMC2669507 · Molecular vision · 2007 · 8 claims · 6 setups
Five RS1 mutations (c.574C>T, c.583A>G, c.608C>T, c.617G>A, c.637C>T) were identified in exon 6 of six unrelated Indian XLRS patients
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups
Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)