Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2B
Variant:p.L138F
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RNASEH2B

NM_024570.4:p.L138F

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

CCNF (Cyclin F) as a Candidate Gene for Familial Hodgkin Lymphoma: Additional Evidence for the Importance of Mitotic Checkpoint Defects in Tumorigenesis.

Khoury E et al.

Hemasphere, 2023

38026792 (PubMed )
Supplement: hs9-7-e985-s001.xlsx › Suppl_Table_S4

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

Peixoto de Barcelos I et al.

Brain Sciences, 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
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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."