Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L294_A295insA
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TREX1

NM_033629.6:p.L294_A295insA

Associated Papers

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.

Zeng Z et al.

Human Genomics, 2025

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

[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].

Ji T et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."