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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Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.
PMID 7577469 · PMC2033918 · British journal of cancer · 1995 · 6 claims · 4 setups
No p53 mutations were found in the hotspot region (exons 4-8) of 25 phaeochromocytomas by PCR-SSCP and sequencing
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Dual and recombinant infections: an integral part of the HIV-1 epidemic in Brazil.
PMID 10081673 · PMC2627691 · Emerging infectious diseases · 1999 · 8 claims · 8 setups
Among 79 HIV-1 infected patients, 3 (3.8%) had dual infections, 6 (7.6%) had recombinant infections, and 70 (88.6%) had single-subtype infections
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Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups
A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.
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Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups
Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases
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Alteration of the p53 tumor suppressor gene occurs independently of K-ras activation and more frequently in serous adenocarcinomas than in other common epithelial tumors of the human ovary.
PMID 7852189 · PMC5919385 · Japanese journal of cancer research : Gann · 1994 · 7 claims · 4 setups
p53 gene mutations occur more frequently in serous adenocarcinomas than in other common epithelial ovarian tumors combined
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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups
21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.
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Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.
PMID 11850598 · PMC3054831 · Journal of Korean medical science · 2002 · 7 claims · 5 setups
MELAS muscle shows strongly SDH-positive blood vessels (SSVs) and many COX-positive ragged-red fibers, while MERRF muscle shows neither SSVs nor COX-positive RRFs, giving distinct histochemical staining patterns between the two diseases.
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.