PubCasesCollection  

Documents (1,075,899) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 19037252 Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. Diff 1.06 KB 2015-11-24 29 0
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PubMed 20606392 Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from 1.38 KB 2016-01-05 29 0
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PubMed 9870359 Different O-glycosylation of respiratory mucin glycopeptides from a patient with cystic fibrosis. Th 1.28 KB 2018-12-27 29 0
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PubMed 3108247 Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 1.56 KB 2015-11-27 29 0
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PubMed 20106987 Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the 1.8 KB 2015-11-25 29 0
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PubMed 8910493 Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with struc 2.41 KB 2015-11-27 29 0
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PubMed 15064320 Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of C 1.45 KB 2015-11-18 29 0
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PubMed 19394258 The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome 1.57 KB 2015-11-25 29 0
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PubMed 7693712 Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) col 1.81 KB 2015-11-27 29 0
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PubMed 20959502 Cerebrospinal fluid penetration of high-dose daptomycin in suspected Staphylococcus aureus meningiti 2.11 KB 2016-01-05 29 0
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