Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.P33R
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RNASEH2C

NM_032193.4:p.P33R

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

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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."