Functional analyses of rare germline missense brca1 variants located within and outside protein domains with known functions

HIGHLIGHTS

• who: Henrikke Nilsen Hovland and colleagues from the Western Familial Cancer Center, Haukeland University Hospital, Bergen have published the research: Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions, in the Journal: Genes 2023, 262 of /2023/
• what: The majority of these studies focus on domain specific assays and have been performed using isolated protein domains and not the full-length protein. The authors have therefore functionally evaluated the effect of 14 rare missense considered to be of uncertain clinical significance of which 13 are outside the . . .
  

   

  

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