Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.S384S
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BARD1

NM_000465.4:p.S384S

Associated Papers

Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.

Benito-Sánchez B et al.

Scientific Reports, 2022

35595798 (PubMed )
Supplement: 41598_2022_12480_MOESM2_ESM.docx

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.

Alenezi WM et al.

Genes, 2020

32726901 (PubMed )
Supplement: genes-11-00856-s001.zip › 2020.07.24_V11_Supplementary_Table_FINAL_no_references.xlsx › Table

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

Bellido F et al.

Gastroenterology, 2018

Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.

De Brakeleer S et al.

Clinical Genetics, 2016

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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."