Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation

Ayaz A., Sager S., Göksen A., Kök K., Caliskan E., Alomari O.

CLINICAL GENETICS, 2024 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1111/cge.14674
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE
  • Anahtar Kelimeler: ASTN1 gene, epileptic encephalopathy, neurodevelopmental disorders, whole exome sequencing
  • İstanbul Medipol Üniversitesi Adresli: Evet