Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.T518fs
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ADAR

NM_001111.5:p.T518fs

Associated Papers

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

Cardiac valve involvement in ADAR-related type I interferonopathy.

Crow Y et al.

Journal of Medical Genetics, 2020

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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."