Varaico: Literature-Extracted Genetic Variants

Gene:RAD51D
Variant:p.Q192_V193Splc
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RAD51D

NM_002878.4:p.Q192_V193Splc

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

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

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.

Yang X et al.

Journal of the National Cancer Institute, 2020

32107557 (PubMed )
Supplement: djaa030_supplementary_data.pdf

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.

Golmard L et al.

European Journal of Human Genetics : Ejhg, 2017

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

Kraus C et al.

International Journal of Cancer, 2017

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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."