Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.H2754R
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BRCA2

NM_000059.4:p.H2754R

Associated Papers

Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.

Ustun Yilmaz S et al.

Genes, 2024

38927659 (PubMed )
Supplement: genes-15-00724-s001.zip › genes-2990258-supplementary.pdf

A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations.

Bosdet IE et al.

The Journal of Molecular Diagnostics : Jmd, 2013

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