Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2B
Variant:p.G146Splc
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RNASEH2B

NM_024570.4:p.G146Splc

Associated Papers

Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.

Dragoni F et al.

Frontiers in Endocrinology, 2023

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

Ribonuclease H2 in health and disease.

Reijns MA et al.

Biochemical Society Transactions, 2014

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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."