A novel pathogenic PTRH2 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)

• 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