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).

Publications 1.3k Datasets 392.5k Experiments 5

System / cell line: leukocytes ✕ Assay: germline ✕ Clear

Investigations on a clinically and functionally unusual and novel germline p53 mutation.

PMID 12085209 · PMC2746598 · British journal of cancer · 2002 · 8 claims · 7 setups

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A novel germline 7 base pair insertion in exon 5 of p53 (causing frameshift from codon 161 with a stop at codon 182) was identified in a patient with osteosarcoma at age 22 and choroid plexus papilloma at age 29.

peripheral yeast saos-2 genomic fasay apoptotic
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

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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

genomic same pcr multiplex pcr snapshot
Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

PMID 15833136 · PMC1097718 · BMC cancer · 2005 · 8 claims · 6 setups

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A 250 Kbp deletion spanning intron 5 to beyond exon 15 of APC was identified in one FAP patient using MLPA, karyotyping, and FISH.

genomic peripheral metaphase dhplc sequencing rt-pcr
A spectrum of severe familial liver disorders associate with telomerase mutations.

PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups

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Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.

leukocyte leukocytes reconstitution liver sanger flow telomerase
Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups

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Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC

formalin-fixed corresponding sporadic pcr clinical

Experiments

Investigations on a clinically and functionally unusual and novel germline p53 mutation.

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

A spectrum of severe familial liver disorders associate with telomerase mutations.

Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.