Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.P193L
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ADAR

NM_001111.5:p.P193L

Associated Papers

Novel insights into double-stranded RNA-mediated immunopathology.

de Reuver R et al.

Nature Reviews. Immunology, 2024

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

Liu L et al.

Frontiers in Pediatrics, 2022

Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India.

Sathishkumar D et al.

Clinical and Experimental Dermatology, 2021

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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."