Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.R328Q
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ADAR

NM_001111.5:p.R328Q

Associated Papers

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Stenton SL et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37577678 (PubMed )
Supplement: media-2.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."