Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2A
Variant:p.A249V
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RNASEH2A

NM_006397.3:p.A249V

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

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

Aydin H et al.

Developmental Neurobiology, 2025

Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.

Bhattarai P et al.

Acta Neuropathologica, 2024

38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_1

Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype.

Peixoto de Barcelos I et al.

Brain Sciences, 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."