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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Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups
MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments
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Long-term trends in evolution of indels in protein sequences.
PMID 17298668 · PMC1805498 · BMC evolutionary biology · 2007 · 8 claims · 5 setups
More than one third of protein domains show a statistically significant tendency to increase or decrease in size over evolutionary distance.
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Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.
PMID 18565236 · PMC2442058 · BMC medical genetics · 2008 · 7 claims · 6 setups
The combined LD-PCR/DHPLC diagnostic strategy achieved a 100% mutation detection rate across 122 Taiwanese hemophilia A families.
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Coiled-coil protein composition of 22 proteomes--differences and common themes in subcellular infrastructure and traffic control.
PMID 16288662 · PMC1322226 · BMC evolutionary biology · 2005 · 7 claims · 5 setups
Proteins with extended coiled-coil domains (>250 amino acids) are largely absent from bacterial genomes but present in archaea and eukaryotes.
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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
PMID 18818683 · PMC2756756 · Kidney international · 2008 · 8 claims · 8 setups
Developed an MLPA assay with PKD1 exon 1-33 probes designed at single base-pair mismatches with the six PKD1 pseudogenes to achieve locus specificity
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Has reproduction · 87
Extensive variation between chromosomes of North American and European hop.
PMID 42204144 · PMC13216280 · Nature communications · 2026 · 8 claims · 8 setups
Chromosome-scale, haplotype-resolved genome assemblies of the hybrid hop cultivar Apollo were generated using hifiasm, ALLHiC, and TRITEX pipelines with PacBio HiFi and Hi-C data
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Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups
Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).
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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups
A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP
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Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).
PMID 19929093 · PMC2945731 · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2009 · 8 claims · 4 setups
The translocation breakpoints disrupt SLC31A1 (intron 1) on chromosome 9 and a predicted gene containing CCL2 (5'UTR/exons) on chromosome 17
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups
A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family
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Proceedings of the First International Conference on Phylogenomics. March 15-19, 2006. Quebec, Canada.
PMID 17288567 · PMC1796603 · BMC evolutionary biology · 2007 · 8 claims · 8 setups
Gene tree parsimony applied to EST data with widespread gene duplication can infer an organismal phylogeny in excellent agreement with the expected angiosperm phylogeny.
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Has reproduction · 81
An Erg-driven transcriptional program controls B cell lymphopoiesis.
PMID 32541654 · PMC7296042 · Nature communications · 2020 · 7 claims · 8 setups
Erg is essential for early B lymphoid differentiation