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

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

BRAIN, vol.147, no.7, 2024 (SCI-Expanded, Scopus)

  • Publication Type: Article / Letter
  • Volume: 147 Issue: 7
  • Publication Date: 2024
  • Doi Number: 10.1093/brain/awae099
  • Journal Name: BRAIN
  • Journal Indexes: 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 University Affiliated: Yes