New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

---

Van Gijn M. E., Ceccherini I., Shinar Y., Carbo E. C., Slofstra M., Arostegui J. I., ...Daha Fazla

Journal of medical genetics, cilt.55, sa.8, ss.530-537, 2018 (SCI-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 55 Sayı: 8
• Basım Tarihi: 2018
• Doi Numarası: 10.1136/jmedgenet-2017-105216
• Dergi Adı: Journal of medical genetics
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.530-537
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• Hacettepe Üniversitesi Adresli: Evet

Özet

Background Hereditary recurrent fevers (HRFs) are rare inflammatory diseases sharing similar clinical symptoms and effectively treated with anti-inflammatory biological drugs. Accurate diagnosis of HRF relies heavily on genetic testing.