Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.L480S
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BARD1

NM_000465.4:p.L480S

Associated Papers

Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.

Oak N et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Multiprotein Assemblies, Phosphorylation and Dephosphorylation in Neuronal Cytoskeleton.

Kurochkina N et al.

Biorxiv : the Preprint Server for Biology, 2023

Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon.

Adedokun B et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Surrey LF et al.

Genome Medicine, 2019

31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8

H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids.

Nakamura K et al.

Nature Cell Biology, 2019

Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.

Adamovich AI et al.

Plos Genetics, 2019

Dualistic Role of BARD1 in Cancer.

Cimmino F et al.

Genes, 2017

Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.

Alshatwi AA et al.

Plos One, 2012

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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."