TREX1 (NM_033629.6) sequence variants
(CRV, AGS1, DRN3, HERNS, RVCLS)

PubMed of the initial paper:

• Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome
  Rice G & al
• Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
  Crow YJ & al

Other links:

• MAP VIEW
• ORPHANET: Orphan disease database