Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.G65D
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RNASEH2C

NM_032193.4:p.G65D

Associated Papers

LASSO-derived nomogram for early identification of pediatric monogenic lupus.

Zhang TY et al.

World Journal of Pediatrics : Wjp, 2024

Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.

Zhang S et al.

Pediatric Investigation, 2024

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

Aicardi-Goutières syndrome: The need for clinical vigilance in fetuses with sonographic features of congenital infection.

Yu QX et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2023

Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.

Wang W et al.

World Journal of Pediatrics : Wjp, 2022

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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."