Associated Papers
The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.
Shaw CA et al.
American Journal of Human Genetics, 2025
40829599 (PubMed )
Supplement: mmc2.xlsx › Annotations
Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant.
Li J et al.
Frontiers in Oncology, 2021
Characterization of splice-altering mutations in inherited predisposition to cancer.
Casadei S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
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