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

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

Journal of medical genetics, vol.55, no.8, pp.530-537, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 8
  • Publication Date: 2018
  • Doi Number: 10.1136/jmedgenet-2017-105216
  • Journal Name: Journal of medical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.530-537
  • Hacettepe University Affiliated: Yes

Abstract

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.