Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2B
Variant:p.D198N
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RNASEH2B

NM_024570.4:p.D198N

Associated Papers

Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).

de Barcelos IP et al.

Molecular Genetics and Metabolism, 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."