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
Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.
Wang Y et al.
Translational Vision Science & Technology, 2023
36735267 (PubMed )
Supplement: tvst-12-2-4_s001.xls › S1-SNVs
Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.
Hlaváč V et al.
Life Science Alliance, 2022
36229065 (PubMed )
Supplement: LSA-2022-01551_TableS16.xlsx › Table_S16
Atypical Hemolytic Uremic Syndrome-Associated FHR1 Isoform FHR1*B Enhances Complement Activation and Inflammation.
Xu B et al.
Frontiers in Immunology, 2022
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
Bonnard C et al.
The Journal of Experimental Medicine, 2020
32845958 (PubMed )
Supplement: JEM_20191561_TableS1.xlsx › WES_All
Factors determining penetrance in familial atypical haemolytic uraemic syndrome.
Sansbury FH et al.
Journal of Medical Genetics, 2014
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