Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.D39Y
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RNASEH2C

NM_032193.4:p.D39Y

Associated Papers

RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.

Wang Q et al.

Clinical Genetics, 2023

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Garau J et al.

Journal of Clinical Medicine, 2019

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Günther C et al.

The Journal of Clinical Investigation, 2015

Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.

Kind B et al.

Human Molecular Genetics, 2014

Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes.

Hasan M et al.

Nature Immunology, 2013

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

Ramantani G et al.

Arthritis and Rheumatism, 2010

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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."