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DisGeNET5_variant_disease
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DisGeNET5_variant_disease
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# proj.
# Ann.
updated_at
PubMed
21641967
Genetic susceptibility to sporadic ovarian cancer: a systematic review. Ovarian cancer is a highly lethal disease. Many researchers have, therefore, attempted to identify high risk populations. In thi
1.7 KB
2025-10-02
19
5
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PubMed
26702765
Risk factors for keratinocyte skin cancer in patients diagnosed with melanoma, a large retrospective study. BACKGROUND: Melanoma survivors are at an increased risk of developing other malignancies, in
2.2 KB
2016-01-27
6
3
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PubMed
24070858
Association analyses identifying two common susceptibility loci shared by psoriasis and systemic lupus erythematosus in the Chinese Han population. BACKGROUND: Genome-wide association studies (GWASs)
1.63 KB
2025-10-02
8
124
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PubMed
15858149
c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. Mastocytosis represents a clonal proliferation of mast cell hematopoietic progenitors caused by gain-o
1.69 KB
2015-11-22
1
3
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PubMed
16240353
G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Mutations in LRRK2 were recently identified in autosomal dominant Parkinson's disease (PD), including the G2019S mu
763 Bytes
2015-11-23
3
6
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PubMed
17502474
Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. OBJECTIVE: To report an ataxic variant of Alzheimer disease expressing a novel molecular phenotype. DES
1.37 KB
2015-11-23
7
10
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PubMed
19428252
Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia. Nuclear genes affecting mitochondrial genome stability were sc
855 Bytes
2017-09-04
10
3
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PubMed
21910226
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. LEOPARD syndrome (LS), generally caused by
1.08 KB
2015-11-26
12
6
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PubMed
26757195
PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population. The missense P39L variant in the prion protein gene (PRNP) has recently been associated with frontotemporal dementia
748 Bytes
2017-09-04
7
5
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PubMed
23826131
Genetic variants in vitamin d pathway genes and risk of pancreas cancer; results from a population-based case-control study in ontario, Canada. Recent studies of 25-hydroxyvitamin D (25(OH)D) levels a
1.67 KB
2015-11-26
6
14
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