Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.A279_V280Splc
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RAD51C

NM_058216.3:p.A279_V280Splc

Associated Papers

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

A validated heart-specific model for splice-disrupting variants in childhood heart disease.

Lesurf R et al.

Genome Medicine, 2024

39402625 (PubMed )
Supplement: 13073_2024_1383_MOESM3_ESM.xlsx › Table_S3

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

Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.

Sanoguera-Miralles L et al.

Cancers, 2022

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

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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."