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DisGeNET5_variant_disease
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PubMed
10333491
Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular tr
3.64 KB
2015-11-15
5
3
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PubMed
10334323
Association of polymorphism in the NeuroD/BETA2 gene with type 1 diabetes in the Japanese. NeuroD/BETA2, a transcription factor of the insulin gene, also plays an important role in the development of
1.43 KB
2015-11-15
4
5
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PubMed
10334644
Genetic polymorphism of glutathione S-transferase P1 gene and lung cancer risk. OBJECTIVES: The human GSTTP1 gene is polymorphic with an A-->G transition in exon 5 causing a replacement 105 Ile-->Val
1.31 KB
2015-11-15
5
7
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PubMed
10334806
The Lys198Asn polymorphism in the endothelin-1 gene is associated with blood pressure in overweight people. There is accumulating evidence that endothelin-1 plays an important role in vascular pathoph
1.9 KB
2015-11-15
5
3
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PubMed
10334807
The 825C/T polymorphism of the G-protein subunit beta3 is not related to hypertension. A polymorphism at position 825 (C-->T) of the cDNA that encodes the beta3 subunit (GNB3) of the pertussis toxin-s
1.94 KB
2015-11-15
4
8
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PubMed
10336779
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online. Neurofibromatosis type 1 (NF1) is a dominant disorder caused by mutations in the NF1 gene; approximate
1.22 KB
2015-11-15
4
3
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PubMed
10337870
Variation of the fatty acid binding protein 2 gene is not associated with obesity and insulin resistance in Japanese subjects. An alanine to threonine substitution at codon 54 of the fatty acid bindin
1.11 KB
2015-11-15
5
3
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PubMed
10339462
The alpha2 gene coding sequence T807/A873 of the platelet collagen receptor integrin alpha2beta1 might be a genetic risk factor for the development of stroke in younger patients. The polymorphisms C80
1.44 KB
2015-11-15
4
3
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PubMed
10340440
The melanocyte stimulating hormone receptor polymorphism: association of the V92M and A294H alleles with basal cell carcinoma. Allelic variants in the melanocyte stimulating hormone receptor (MC1R) ge
1.28 KB
2015-11-15
5
3
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PubMed
10343885
Public health perspectives on testing for colorectal cancer susceptibility genes. CONTEXT: About 131,600 new cases of colorectal cancer will be diagnosed in the United States in 1998. About 27,900 men
1.35 KB
2015-11-15
5
5
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