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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNASEH2A

Variant:p.D205A

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RNASEH2A

NM_006397.3:p.D205A

hg38:chr19:12810381 A>C

Associated Papers

RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.

Benitez-Guijarro M et al.

The Embo Journal, 2018

29959219 (PubMed )

Supplement: EMBJ-37-e98506-s001.pdf

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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."