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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to

Petra Zemankova1, Marta Cerna2, Klara Horackova2

  • 1Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Breast (Edinburgh, Scotland)
|March 30, 2024
PubMed

Keywords:
Breast cancerDeep intronic CHEK2 variantGenetic testingNGSRNA analysis

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