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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BARD1

Variant:p.E771_L775del5

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BARD1

NM_000465.4:p.E771_L775del5

hg38:chr2:214728682 GTCAAGAGGAAGCAAC>G

Associated Papers

Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms.

Ratajska M et al.

Oncology Reports, 2015

26329992 (PubMed )

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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."