Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2B
Variant:p.A193V
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RNASEH2B

NM_024570.4:p.A193V

Associated Papers

Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India.

Sathishkumar D et al.

Clinical and Experimental Dermatology, 2021

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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."