Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia


Distelmaier F., Sezer A., Helm C., Waldmueller S., Seibt A., Gangfuss A., ...Daha Fazla

BRAIN, sa.7, 2024 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Kısa Makale
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1093/brain/awae099
  • Dergi Adı: BRAIN
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, Applied Science & Technology Source, BIOSIS, CINAHL, EMBASE, Linguistics & Language Behavior Abstracts, MLA - Modern Language Association Database, Psycinfo
  • Hacettepe Üniversitesi Adresli: Evet