Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.
Li D et al.
Npj Precision Oncology, 2025
40514442 (PubMed )
Supplement: 41698_2025_993_MOESM2_ESM.xlsx › RNA-unique_variants__Impacts_
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S1
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Nicolas G et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2018
30114415 (PubMed )
Supplement: EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx › Table_S9_BACE1andgsec_NS_1_
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C et al.
Plos One, 2016
27249223 (PubMed )
Supplement: pone.0150079.s002.xlsx › Tabelle1
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
Deep sequencing of the Nicastrin gene in pooled DNA, the identification of genetic variants that affect risk of Alzheimer's disease.
Lupton MK et al.
Plos One, 2011
Genetics, environmental factors and the emerging role of epigenetics in neurodegenerative diseases.
Migliore L et al.
Mutation Research, 2009
Rat nicastrin gene: cDNA isolation, mRNA variants and expression pattern analysis.
Confaloni A et al.
Brain Research. Molecular Brain Research, 2005
Nicastrin gene in familial and sporadic Alzheimer's disease.
Confaloni A et al.
Neuroscience Letters, 2003
The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.
Dermaut B et al.
American Journal of Human Genetics, 2002
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