Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2A
Variant:p.R286L
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RNASEH2A

NM_006397.3:p.R286L

Associated Papers

The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.

Aydin H et al.

Developmental Neurobiology, 2025

Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.

Zhang S et al.

Pediatric Investigation, 2024

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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."