Varaico: Literature-Extracted Genetic Variants

Gene:RAD51D
Variant:p.V246_V247Splc
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RAD51D

NM_002878.4:p.V246_V247Splc

Associated Papers

Germline RAD51C and RAD51D Mutations in High-Risk Chinese Breast and/or Ovarian Cancer Patients and Families.

Kwong A et al.

Journal of Personalized Medicine, 2024

39202057 (PubMed )
Supplement: jpm-14-00866-s001.zip › jpm-3121883-supplementary.pdf

Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.

Andersen LVB et al.

Breast Cancer Research : Bcr, 2023

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

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.

Bueno-Martínez E et al.

Cancers, 2021

Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.

Konstanta I et al.

Journal of Human Genetics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."