Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S88insFs
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TREX1

NM_033629.6:p.S88insFs

Associated Papers

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

Świerczyńska M et al.

Journal of Personalized Medicine, 2023

TREX1 as a Novel Immunotherapeutic Target.

Hemphill WO et al.

Frontiers in Immunology, 2021

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.

Ferraro RM et al.

Stem Cell Research, 2019

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Garau J et al.

Journal of Clinical Medicine, 2019

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

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.

Olivieri I et al.

Lupus, 2013

Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes.

Pulliero A et al.

Oncology Reports, 2012

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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."