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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In vivo phosphoproteome of human skeletal muscle revealed by phosphopeptide enrichment and HPLC-ESI-MS/MS.
PMID 19764811 · PMC2783959 · Journal of proteome research · 2009 · 8 claims · 6 setups
This is the first large-scale in vivo phosphoproteomic study of human skeletal muscle
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A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups
A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family
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A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
PMID 18804929 · PMC2702532 · Brain & development · 2009 · 6 claims · 8 setups
A novel homozygous POMT2 mutation (c.604T>G, p.F202V) causes mild congenital muscular dystrophy with normal brain MRI
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Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups
The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.
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Genomic and proteomic profiling of responses to toxic metals in human lung cells.
PMID 12760830 · PMC1241504 · Environmental health perspectives · 2003 · 8 claims · 8 setups
Toxic metals (Cd, Cr, Ni, As) each induce a largely distinct, metal-specific pattern of gene expression changes in BEAS-2B human bronchial epithelial cells
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Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups
Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients
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Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups
Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).
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Update on diabetes mellitus.
PMID 15502249 · PMC3839330 · Disease markers · 2004 · 8 claims · 7 setups
Type 1 diabetes results from selective destruction of pancreatic beta cells via T-cell and cytokine mediated autoimmune mechanisms, possibly involving destruction of peri-islet Schwann cells.