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PubMed 25420549 Genetic variants of GSK3B are associated with biomarkers for Alzheimer's disease and cognitive function. BACKGROUND: Glycogen synthase kinase 3 beta (GSK3B) is the major kinase phosphorylating tau pro 1.8 KB 2025-10-02 9 6
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PubMed 19332048 Polymorphisms of MMP-2 gene are associated with systolic heart failure prognosis. BACKGROUND: MMP-2 is a proteolytic enzyme involved in myocardial remodeling that occurs in congestive heart failure (H 1.55 KB 2025-10-02 7 6
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PubMed 16849697 Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells. Kidney AE1 (kAE1) is a glycoprotein responsible for the e 1.84 KB 2015-11-19 5 20
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PubMed 12648223 Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. Erythrokeratodermia variabilis is an autosomal dominant 2.43 KB 2015-11-17 4 5
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PubMed 16272257 The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. BACKGROUND: Mutations in the gene Leucine-Rich Repeat Kinase 2 1.59 KB 2015-11-23 5 8
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PubMed 16847423 Genetic variation of Cytochrome P450 1B1 (CYP1B1) and risk of breast cancer among Polish women. Four single nucleotide polymorphisms (SNPs) in CYP1B1 (Ex2 + 143 C > G, Ex2 + 356 G > T, Ex3 + 251 G > C 1.98 KB 2015-11-19 5 44
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PubMed 20232877 Imaging human pancreatic cancer xenografts by targeting mutant KRAS2 mRNA with [(111)In]DOTA(n)-poly(diamidopropanoyl)(m)-KRAS2 PNA-D(Cys-Ser-Lys-Cys) nanoparticles. 95% of patients with ductal pancre 3.17 KB 2015-11-25 7 5
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PubMed 17265047 Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Achromatopsia (ACHM) or rod monoc 1.72 KB 2015-11-23 6 5
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PubMed 20410308 Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. The PQBP1 (polyglutamine tract-binding protein 1) 1.37 KB 2015-11-25 26 3
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PubMed 21951294 A single nucleotide polymorphism rs9468925 of MHC region is associated with clinical features of generalized vitiligo in Chinese Han population. BACKGROUND: Vitiligo has been found to be associated wi 1.73 KB 2025-10-02 9 8
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