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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Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations.
PMID 19744331 · PMC2749040 · BMC structural biology · 2009 · 8 claims · 1 setups
The simulation-derived JH1/JH2 interface provides a platform that explains the mutational effect of all tested mutants, including presumably benign controls, at the atomic level
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Systematic analysis of human kinase genes: a large number of genes and alternative splicing events result in functional and structural diversity.
PMID 16351747 · PMC1866387 · BMC bioinformatics · 2005 · 8 claims · 7 setups
Systematic in silico search identified 5 novel human kinase genes (on chromosomes 1, 11, 13, 15, 16) and 1 pseudogene (chromosome X) absent from KinBase
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A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups
A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family
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JAK2 V617F: a single mutation in the myeloproliferative group of disorders.
PMID 16755940 · PMC1891745 · The Ulster medical journal · 2006 · 8 claims · 8 setups
A single acquired JAK2 mutation (V617F, G1849T in exon 14) is found across polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis
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Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups
Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients
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Direct resequencing of the complete ERBB2 coding sequence reveals an absence of activating mutations in ERBB2 amplified breast cancer.
PMID 18418848 · PMC6668724 · Genes, chromosomes & cancer · 2008 · 6 claims · 5 setups
Emulsion PCR combined with picotiter plate pyrosequencing (454 sequencing) enables high-resolution, high-throughput detection of low-frequency sequence variants among the many individual copies of an amplified gene.
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High-throughput molecular analysis in lung cancer: insights into biology and potential clinical applications.
PMID 19648524 · PMC4648268 · The European respiratory journal · 2009 · 8 claims · 8 setups
High-throughput -omics technologies have revolutionised understanding of lung cancer biology and hold promise for personalised management of lung cancer
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Expression and mutation analysis of the discoidin domain receptors 1 and 2 in non-small cell lung carcinoma.
PMID 17299390 · PMC2360060 · British journal of cancer · 2007 · 8 claims · 6 setups
DDR1 is significantly upregulated in NSCLC tumour tissue compared with matched normal lung tissue
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Mutation analysis of the MDM4 gene in German breast cancer patients.
PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups
Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients