Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.C208fs
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TREX1

NM_033629.6:p.C208fs

Associated Papers

Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.

Świerczyńska M et al.

Journal of Personalized Medicine, 2023

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.

Frémond ML et al.

Journal of Clinical Immunology, 2023

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