Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L69_C70insFs
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TREX1

NM_033629.6:p.L69_C70insFs

Associated Papers

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Rice G et al.

American Journal of Human Genetics, 2007

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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."