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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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients
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Mosaicism in von Hippel-Lindau disease: an event important to recognize.
PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups
The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.
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Has reproduction · 67
Comprehensive Analysis of Cell Population Dynamics and Related Core Genes During Vitiligo Development.
PMID 33679890 · PMC7933673 · Frontiers in genetics · 2021 · 8 claims · 7 setups
Immune cell infiltration and abnormal gene expression are closely related to vitiligo pathogenesis
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Multiple genetic alterations cause frequent and heterogeneous human histocompatibility leukocyte antigen class I loss in cervical cancer.
PMID 10727458 · PMC2193119 · The Journal of experimental medicine · 2000 · 8 claims · 8 setups
Tumor-associated HLA class I alterations were present in 90% of cervical cancer lesions tested
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Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.
PMID 19967551 · PMC7370861 · Journal of clinical immunology · 2010 · 8 claims · 8 setups
Three unrelated Argentinean HLH patients carry an identical novel homozygous 4-bp deletion (c.581_584delTGCC; p.Leu194ProfsX2) in STX11