Associated Papers
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
Novel insights into breast cancer genetic variance through RNA sequencing.
Horvath A et al.
Scientific Reports, 2013
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER et al.
Plos Genetics, 2012
23028338 (PubMed )
Supplement: pgen.1002894.s003.xlsx › Table_S2_Exome_variants
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