PubCasesCollection  

Documents (1,075,899) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 25138275 Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of 1.7 KB 2016-01-19 28 0
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PubMed 6086605 Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role o 652 Bytes 2015-11-28 28 0
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PubMed 11278977 COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 2.28 KB 2015-11-17 28 0
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PubMed 24671324 Necrotising fasciitis after bortezomib and dexamethasone-containing regimen in an elderly patient of 905 Bytes 2016-01-17 28 0
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PubMed 1674745 Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutatio 1.43 KB 2015-11-19 28 0
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PubMed 2573605 Characterization of glutamate dehydrogenase isoproteins purified from the cerebellum of normal subje 1.38 KB 2015-03-12 28 0
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PubMed 2470760 RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation. The perinatal lethal f 1.37 KB 2015-11-27 28 0
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PubMed 2019586 Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutat 1.59 KB 2015-12-07 28 0
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PubMed 1988452 A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis 2.61 KB 2015-11-25 28 0
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PubMed 9593714 Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity. Mutatio 1.67 KB 2015-11-28 28 0
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