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., ...Daha Fazla

The International journal of neuroscience, cilt.134, sa.10, ss.1040-1045, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 134 Sayı: 10
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1080/00207454.2023.2208279
  • Dergi Adı: The International journal of neuroscience
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Psycinfo
  • Sayfa Sayıları: ss.1040-1045
  • Anahtar Kelimeler: WDR45, BPAN, mosaicism, targeted resequencing, WES
  • Bezmiâlem Vakıf Üniversitesi Adresli: Evet