Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
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T. Awaya | T. Heike | R. Nishikomori | T. Kawai | K. Izawa | Y. Ohshima | J. Abe | T. Yasumi | Toru Hiragi | N. Hiragi