Associated Papers
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.
Llinares-Burguet I et al.
International Journal of Molecular Sciences, 2026
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S3
Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
Eygelaar D et al.
Scientific Reports, 2022
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
van Os NJH et al.
Journal of Neurology, 2020
Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing.
Kwong A et al.
American Journal of Cancer Research, 2020
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