Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2A
Variant:p.T70fs
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RNASEH2A

NM_006397.3:p.T70fs

Associated Papers

Neuroimaging to Genetics: Unraveling the Etiology of Cerebral Palsy in Children From Southern Brazil.

Do Valle DA et al.

Journal of Child Neurology, 2026

40534433 (PubMed )
Supplement: sj-pdf-1-jcn-10.1177_08830738251346918.pdf

Rapidly progressive moyamoya vasculopathy stabilized with immunotherapy in aicardi-goutières syndrome.

Vancura J et al.

Journal of Neurology, 2024

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2015

25604658 (PubMed )
Supplement: supplement_1.docx
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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."