Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2B
Variant:p.E107_G108Splc
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RNASEH2B

NM_024570.4:p.E107_G108Splc

Associated Papers

Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.

Leung ML et al.

European Journal of Medical Genetics, 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

Ribonuclease H2 in health and disease.

Reijns MA et al.

Biochemical Society Transactions, 2014

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