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source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 20846357 A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features o 1.9 KB 2015-11-25 35 34 2021-12-05
PubMed 25979836 Gastrointestinal hormones/neurotransmitters and growth factors can activate P21 activated kinase 2 i 2.1 KB 2016-01-23 35 69 2021-12-05
PubMed 20143913 Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopo 1.09 KB 2015-11-25 35 13 2021-12-05
PubMed 21903317 Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, 1.65 KB 2015-11-26 35 45 2021-12-05
PubMed 27090298 Circulating Fatty Acid Synthase in pregnant women: Relationship to blood pressure, maternal metaboli 1.5 KB 2017-09-04 35 32 2021-12-05
PubMed 21325775 A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprote 1.68 KB 2015-11-26 35 36 2021-12-05
PubMed 28747658 A single amino acid substitution confers B-cell clonogenic activity to the HIV-1 matrix protein p17. 1.42 KB 2017-08-29 34 37 2021-12-05
PubMed 17951029 Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. BACKGROU 1.48 KB 2015-11-23 34 21 2021-12-05
PubMed 15485686 A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tac 1.77 KB 2015-11-19 34 30 2021-12-05
PubMed 18046082 Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with l 1.6 KB 2015-11-23 34 39 2021-12-05