A novel pathogenic <i>PTRH2</i> variant indicates seizure association with protein-truncating variants in Infantile-Onset Multisystem Neurologic, Endocrine and Pancreatic Disease (IMNEPD)

---

AKÇİN Ö. Ç., KURTÇU O., DERİCİOĞLU N., ERDEM ÖZDAMAR S., KURT C. E., ALTINER Ş., ...More

EUROPEAN JOURNAL OF HUMAN GENETICS, pp.1494, 2024 (SCI-Expanded, Scopus)

• Publication Type: Article / Abstract
• Publication Date: 2024
• Journal Name: EUROPEAN JOURNAL OF HUMAN GENETICS
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
• Page Numbers: pp.1494
• Hacettepe University Affiliated: Yes