Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L108F
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TREX1

NM_033629.6:p.L108F

Associated Papers

Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.

Zhang S et al.

Pediatric Investigation, 2024

39347527 (PubMed )
Supplement: PED4-8-193-s001.pdf

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2015

25604658 (PubMed )
Supplement: supplement_1.docx
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