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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Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups
BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant
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A novel germline mutation of PTEN associated with brain tumours of multiple lineages.
PMID 12085208 · PMC2746590 · British journal of cancer · 2002 · 8 claims · 6 setups
A novel heterozygous germline PTEN mutation (Arg234Gln, R234Q) was identified in a patient with glioma and prior meningioma
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Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups
Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy
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Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.
PMID 18397877 · PMC2427143 · Human molecular genetics · 2008 · 8 claims · 8 setups
All six somatic TSC1 missense mutations found in bladder tumours cause loss of TSC1 function, but via distinct molecular mechanisms.
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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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Has reproduction · 79
Species-Wide Phylogenomics of the Staphylococcus aureus Agr Operon Revealed Convergent Evolution of Frameshift Mutations.
PMID 35044202 · PMC8768832 · Microbiology spectrum · 2022 · 8 claims · 7 setups
AgrVATE, a novel kmer-based BLASTn and in silico PCR/Snippy pipeline, enables fast, standardized agr group typing and frameshift/null mutation detection from genome assemblies
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
PMID 16919418 · PMC2842930 · Genomics · 2006 · 8 claims · 8 setups
Human FXN YAC transgenes containing GAA repeat expansions (YG22, YG8) rescue the embryonic lethality of homozygous Fxn knockout mice
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Has reproduction · 85
Cancer-cell-secreted miR-204-5p induces leptin signalling pathway in white adipose tissue to promote cancer-associated cachexia.
PMID 37620316 · PMC10449837 · Nature communications · 2023 · 8 claims · 8 setups
Breast cancer cell-secreted exosomal miR-204-5p induces HIF1A in white adipose tissue by targeting the VHL gene.
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p53 expression and its relationship to DNA alterations in bone and soft tissue sarcomas.
PMID 8260365 · PMC1968651 · British journal of cancer · 1993 · 8 claims · 6 setups
25.7% (29/113) of bone and soft tissue sarcomas show positive p53 immunostaining
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Squamous morules are functionally inert elements of premalignant endometrial neoplasia.
PMID 19180120 · PMC2633489 · Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2009 · 8 claims · 5 setups
Squamous morules are hormonally incompetent, lacking ER/PR expression and proliferative activity, unlike the glandular component
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Genomic characterisation of a Fgf-regulated gradient-based neocortical protomap.
PMID 16079153 · PMC4729368 · Development (Cambridge, England) · 2005 · 7 claims · 7 setups
Neocortical progenitor cells show rostrocaudal gradients of gene expression rather than discrete domains/compartments
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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
PMID 17341461 · PMC1874617 · Nucleic acids research · 2007 · 8 claims · 7 setups
QuantiSNP (OB-HMM) provides probabilistic quantification of copy number states and significantly improves accuracy of segmental aneuploidy identification and breakpoint mapping relative to existing tools (BeadStudio/Illumina)
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Evidence of recombination in Hepatitis C Virus populations infecting a hemophiliac patient.
PMID 19922637 · PMC2784780 · Virology journal · 2009 · 7 claims · 6 setups
A new intragenotypic recombinant HCV strain (1b/1a), named H23, was detected in 1 of 10 hemophiliac patients studied