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DisGeNET5_variant_disease
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DisGeNET5_variant_disease
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PubMed
26758262
Association study of TREM2 polymorphism rs75932628 with leucoaraiosis or Parkinson's disease in the Han Chinese population. OBJECTIVES: The previously reported functional mutation rs75932628-T (p.R47H
1.13 KB
2017-09-04
5
23
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PubMed
22608953
HSPB1 gene polymorphisms predict risk of mortality for US patients after radio(chemo)therapy for non-small cell lung cancer. PURPOSE: We investigated potential associations between single-nucleotide p
1.62 KB
2015-11-26
5
3
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PubMed
25377090
Depressed excitability and ion currents linked to slow exocytotic fusion pore in chromaffin cells of the SOD1(G93A) mouse model of amyotrophic lateral sclerosis. Altered synaptic transmission with exc
1.64 KB
2016-01-20
5
3
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PubMed
25422482
Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease. PURPOSE: Histiocytoses are rare disorders with heterogeneous prog
1.89 KB
2016-01-19
5
11
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PubMed
25341883
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China. BACKGROUND: Hereditary spastic paraplegias constitute a heterogeneous group of inherited neurodegen
1.79 KB
2016-01-19
4
3
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PubMed
11668625
Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease, triggered by inhalative anesthetics or depola
1.36 KB
2015-11-17
4
3
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PubMed
20943793
Genetic variation in TAS1R2 (Ile191Val) is associated with consumption of sugars in overweight and obese individuals in 2 distinct populations. BACKGROUND: Taste is an important determinant of food co
2 KB
2015-11-25
4
5
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PubMed
17212677
Haemochromatosis gene (HFE) polymorphisms and migraine: an association study. Several studies have suggested that iron metabolism may be involved in the pathogenesis of migraine. Using a case-control
1.01 KB
2015-11-23
6
3
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PubMed
21697764
Susceptibility locus for lung cancer at 15q25.1 is not associated with risk of pancreatic cancer. OBJECTIVES: Four genome-wide association (GWA) studies have found that variation in a region of strong
1.1 KB
2016-01-08
3
32
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PubMed
23441136
Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production. Systemic lupus erythematosus (SLE) is an inflammat
2.06 KB
2015-11-27
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9
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