Identification of germinal neurofibromin hotspots

HIGHLIGHTS

• who: Sergio Lois et al. from the Department of Bioinformatics, Sistemas Genómicos, Paterna, Spain University of Salamanca, Salamanca, Spain have published the research: Identification of Germinal Neurofibromin Hotspots, in the Journal: Biomedicines 2021, 9, x FOR PEER REVIEW of /2021/
• what: The authors analyzed 4610 germinal variants annotated in ClinVar and determined on exon level the mutational spectrum and potential pathogenic regions.
• future: More translational studies are needed to pinpoint the impact of variants in NF1 etiology. Despite all these studies the association between the risk of developing NF1 and specific germline . . .
  

   

  

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