Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.E287delFs
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BARD1

NM_000465.4:p.E287delFs

Associated Papers

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

Gimeno AF et al.

American Journal of Medical Genetics. Part A, 2025

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.

Randall MP et al.

Journal of the National Cancer Institute, 2024

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.

Randall MP et al.

Biorxiv : the Preprint Server for Biology, 2023

36778420 (PubMed )
Supplement: media-1.pdf

Germline pathogenic variants in 786 neuroblastoma patients.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36747619 (PubMed )
Supplement: media-1.pdf

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations.

Suszynska M et al.

Genes, 2020

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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."