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DisGeNET5_variant_disease
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DisGeNET5_variant_disease
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# Ann.
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PubMed
17175070
Lack of association of hepatic lipase polymorphisms with late-onset Alzheimer's disease. Several polymorphisms in hepatic lipase (LIPC) are similar to apoE4 because they associate with cholesterol con
909 Bytes
2015-12-25
4
8
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PubMed
23403707
The rs11705701 G>A polymorphism of IGF2BP2 is associated with IGF2BP2 mRNA and protein levels in the visceral adipose tissue - a link to type 2 diabetes susceptibility. BACKGROUND: Insulin-like growth
2.43 KB
2015-11-27
4
3
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PubMed
21441077
Curcumin and genistein additively potentiate G551D-CFTR. BACKGROUND: The G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) is a common cause of cystic fibrosis (CF). G55
1.28 KB
2016-07-20
5
7
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PubMed
18325820
HFE gene mutations in a population of Italian Parkinson's disease patients. An abnormal accumulation and distribution of brain iron are common to different neurodegenerative disorders, including Parki
1.49 KB
2015-11-24
4
5
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PubMed
23736221
The sex-specific associations of the aromatase gene with Alzheimer's disease and its interaction with IL10 in the Epistasis Project. Epistasis between interleukin-10 (IL10) and aromatase gene polymorp
1.44 KB
2016-01-13
6
3
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PubMed
26089371
Insulin family polymorphisms in pregnancies complicated by small for gestational age infants. Being born small for gestational age (SGA) increases the risk for adverse perinatal outcomes and later lif
1.8 KB
2016-01-23
4
3
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PubMed
20445432
A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies. Paramyotonia congenita (PC), first described in 1886 by Eulenberg, is characterized by
1.03 KB
2016-01-01
11
3
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PubMed
12220451
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. Malignan
1.32 KB
2015-11-17
4
5
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PubMed
12191970
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. The extracellular Ca(2+)-sensing receptor (CaSR) plays an ess
1.69 KB
2015-11-17
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6
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PubMed
26218277
Arg25Pro (c.915G>C) polymorphism of transforming growth factor β1 gene suggests an association with increased risk for Hashimoto's thyroiditis. BACKGROUND: The etiopathogenesis of Hashimoto's thyroidi
1.65 KB
2016-01-25
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