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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Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.
PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups
kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.
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Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.
PMID 11556835 · PMC2375072 · British journal of cancer · 2001 · 6 claims · 4 setups
MD-CFLP can detect DNA sequence alterations (single-base substitutions, small insertions/deletions) in BRCA1 fragments longer than 1 kb
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TP53 mutations in ovarian carcinomas from sporadic cases and carriers of two distinct BRCA1 founder mutations; relation to age at diagnosis and survival.
PMID 16229746 · PMC1276789 · BMC cancer · 2005 · 8 claims · 4 setups
Survival for BRCA1-familial ovarian cancer cases with TP53 mutations was not significantly different from familial cases without TP53 mutations (p=0.25, RR=1.64)
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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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Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups
A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.
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Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.
PMID 16961930 · PMC1570477 · Molecular cancer · 2006 · 8 claims · 6 setups
Somatic deletion of the maternal NF1 allele occurred in the melanoma of an NF1 patient, demonstrating biallelic NF1 inactivation.