Associated Papers
High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response.
Darrah KE et al.
Biorxiv : the Preprint Server for Biology, 2026
41542474 (PubMed )
Supplement: media-1.xlsx › Sup._Table_5_MAVE_SNVs_
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
Turchiano A et al.
Cancers, 2022
The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.
Yang C et al.
Breast Cancer Research and Treatment, 2021
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