Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.R2287*
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BRCA2

NM_000059.4:p.R2287*

Associated Papers

Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.

Du X et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40585076 (PubMed )
Supplement: media-3.xlsx › Table_S6

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.

Meulemans L et al.

Cancer Research, 2020

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