ALPK1 (NM_025144.4) sequence variants
(LAK, ROSAH, 8430410J10Rik)

PubMed of the initial paper:

• Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
  Sangiorgi E & al
• ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
  Williams LB & al

Other links:

• MAP VIEW
• ORPHANET: Orphan disease database