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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With the finished human genome in hand, what next?
PMID 12844356 · PMC193627 · Genome biology · 2003 · 8 claims · 8 setups
Gene Ontology (GO) provides a syntax/query framework for functional classification of genes, expanding beyond E. coli origins into anatomy, pathology, and phenotype data.
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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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The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis.
PMID 14970869 · PMC2410163 · British journal of cancer · 2004 · 7 claims · 7 setups
CHEK2*1100delC has no major contribution in oesophageal carcinogenesis
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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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Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.
PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups
JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.
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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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Mutational analysis of TARDBP in neurodegenerative diseases.
PMID 20031275 · PMC2889148 · Neurobiology of aging · 2011 · 8 claims · 4 setups
TARDBP mutations are not a significant cause of AD or PD
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cDNA sequencing improves the detection of P53 missense mutations in colorectal cancer.
PMID 19671129 · PMC2731783 · BMC cancer · 2009 · 8 claims · 6 setups
cDNA sequencing detects P53 missense mutations in colorectal cancer more frequently and reliably than DNA sequencing
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Mutation screening of HSF4 in 150 age-related cataract patients.
PMID 18941546 · PMC2569895 · Molecular vision · 2008 · 8 claims · 4 setups
Five new HSF4 sequence variants (c.1020-25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T, c.1286C>T) were found in age-related cataract patients but not in 220 controls.
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Comprehensive genomic characterization defines human glioblastoma genes and core pathways.
PMID 18772890 · PMC2671642 · Nature · 2008 · 8 claims · 5 setups
NF1 is a genuine human glioblastoma suppressor gene, inactivated by mutation, deletion, or expression loss in at least 23% of GBM samples
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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups
Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)