Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P59P
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TREX1

NM_033629.6:p.P59P

Associated Papers

The c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First-Line Genetic Test for Aicardi-Goutières Syndrome: A Case Series of Four Moroccan Families.

Ouhenach M et al.

American Journal of Medical Genetics. Part A, 2025

Characterization of six recombinant human RNase H2 bearing Aicardi-Goutiéres syndrome causing mutations.

Nishimura T et al.

Journal of Biochemistry, 2019

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

Ramantani G et al.

Arthritis and Rheumatism, 2010

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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."