A novel pathogenic variant in VARS1 associated with a syndromic neurodevelopmental disorder with craniofacial, and neuroradiological abnormalities in a Turkish family

Per H.

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.32, sa.1, ss.207-208, 2024 (SCI-Expanded)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 1
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1038/s41431-023-01481-y
  • Dergi Adı: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.207-208
  • Erciyes Üniversitesi Adresli: Evet