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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Gefitinib for non-small-cell lung cancer patients with epidermal growth factor receptor gene mutations screened by peptide nucleic acid-locked nucleic acid PCR clamp.
PMID 17106442 · PMC2360739 · British journal of cancer · 2006 · 5 claims · 4 setups
NSCLC patients with EGFR mutations detected by PNA-LNA PCR clamp show significantly higher response rates and longer survival with gefitinib than EGFR wild-type patients.
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Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.
PMID 17603881 · PMC1924843 · BMC medical genetics · 2007 · 7 claims · 4 setups
Ten recurrent/founder mutations (5 in BRCA1, 5 in BRCA2, including the newly observed BRCA2 c.5374-5377delTATG) account for approximately 50% of BRCA1/2 mutations identified in Spanish families
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Mutations in the ST7/RAY1/HELG locus rarely occur in primary colorectal, gastric, and hepatocellular carcinomas.
PMID 12799635 · PMC2741100 · British journal of cancer · 2003 · 7 claims · 4 setups
ST7 gene mutations are rare in primary colorectal, gastric, and hepatocellular carcinomas
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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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p53 mutations occur in clinical, but not latent, human prostate carcinoma.
PMID 7737911 · PMC5920585 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 4 setups
p53 point mutations occur in clinical prostate cancer but not in latent (subclinical) prostate carcinoma
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Infrequent mutation of the H-cadherin gene on chromosome 16q24 in human breast cancers.
PMID 9330599 · PMC5921496 · Japanese journal of cancer research : Gann · 1997 · 4 claims · 2 setups
Mutation of the H-cadherin gene is very infrequent in primary breast cancers with 16q loss
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BRCA1 mutations in southern England.
PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups
Early age of onset combined with a strong family history is the most effective selection criterion for detecting BRCA1 mutations, more so than bilaterality alone
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Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.
PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups
The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer
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BRAF mutations in non-Hodgkin's lymphoma.
PMID 14612909 · PMC2394455 · British journal of cancer · 2003 · 7 claims · 4 setups
BRAF is somatically mutated in a subset of NHLs (4/164, 2.4%)
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B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis.
PMID 17311103 · PMC1794595 · PloS one · 2007 · 5 claims · 4 setups
B-RAF and N-RAS mutation status is well preserved (strongly concordant) between tumor tissue biopsies and corresponding short-term in vitro propagated cell lines.
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Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups
LQTS-associated mutations were identified in 8 of 112 families studied
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Crystallin gene mutations in Indian families with inherited pediatric cataract.
PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups
Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population
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Infrequent somatic mutation of the MTS1 gene in primary bladder carcinomas.
PMID 7744694 · PMC5920817 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 3 setups
MTS1/CDK4I is a candidate tumor suppressor gene located on chromosome 9p21
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Mutation analysis of the WT1 gene in myelodysplastic syndromes.
PMID 9765617 · PMC5921914 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 3 setups
WT1 mutations are uncommon overall in MDS
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Association of p53 gene mutations with short survival in pancreatic adenocarcinoma.
PMID 7730141 · PMC5920762 · Japanese journal of cancer research : Gann · 1995 · 8 claims · 4 setups
p53 gene mutations were detected in 16 of 37 (43%) pancreatic adenocarcinomas by SSCP and direct sequencing
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Minisequencing mitochondrial DNA pathogenic mutations.
PMID 18402672 · PMC2377236 · BMC medical genetics · 2008 · 7 claims · 7 setups
A minisequencing multiplex assay can interrogate 25 pathogenic mtDNA mutations across the whole mtDNA genome in a single reaction using 13 amplicons.
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Infrequent involvement of p53 gene mutations in the tumourigenesis of Japanese prostate cancer.
PMID 7691145 · PMC1968625 · British journal of cancer · 1993 · 6 claims · 3 setups
p53 gene mutations are infrequent in the tumorigenesis of primary Japanese prostate cancer
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Mutational analysis of BRCA1 gene in ovarian and breast-ovarian cancer families in Japan.
PMID 9197534 · PMC5921420 · Japanese journal of cancer research : Gann · 1997 · 5 claims · 2 setups
Germline BRCA1 mutations were detected in 7 of 19 Japanese cancer families (4 breast-ovarian, 3 site-specific ovarian)
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Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history.
PMID 16389418 · PMC11060407 · Sao Paulo medical journal = Revista paulista de medicina · 2005 · 8 claims · 2 setups
BRCA1 or BRCA2 mutations were detected in 4 of 31 (13%) Brazilian breast cancer patients with positive family history
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Calibration-free NGS quantitation of mutations below 0.01% VAF.
PMID 34675197 · PMC8531361 · Nature communications · 2021 · 8 claims · 6 setups
QBDA (Quantitative Blocker Displacement Amplification) integrates UMI molecular barcoding with BDA variant enrichment to enable calibration-free VAF quantitation