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
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1
Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.
Perälä M et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2023
37533579 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S1
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.
Sinha S et al.
Nature Communications, 2021
34764240 (PubMed )
Supplement: 41467_2021_26788_MOESM14_ESM.zip › Source_Data › Source_Data_Figure_1-6.xlsx › Figure_6F
Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.
Schmitt M et al.
Cancers, 2021
34771574 (PubMed )
Supplement: cancers-13-05411-s001.zip › cancers-1421686_Table_S4.xlsx › Sheet_1
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
Severe atypical hydroa vacciniforme-like lymphoproliferative disorder in a patient with hyper IgE syndromes due to DOCK8 gene mutation.
Zhang C et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
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