Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration.

Susgun S., Demirel M., Yalcin Cakmakli G., Salman B., K Oguz K., Elibol B., ...More

The International journal of neuroscience, pp.1-7, 2023 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2023
  • Doi Number: 10.1080/00207454.2023.2208279
  • Journal Name: The International journal of neuroscience
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Psycinfo
  • Page Numbers: pp.1-7
  • Keywords: WDR45, BPAN, mosaicism, targeted resequencing, WES
  • Bezmialem Vakıf University Affiliated: Yes