Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.R1042delFs
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ADAR

NM_001111.5:p.R1042delFs

Associated Papers

Aicardi-Goutières syndrome and dyschromatosis symmetrica hereditaria due to compound heterozygous mutation of ADAR1, presentation of two cases.

Linares-Navarro R et al.

International Journal of Dermatology, 2023

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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."