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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DDX23

Variant:p.R754C

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DDX23

NM_004818.3:p.R754C

hg38:chr12:48830672 G>A

Associated Papers

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

35599849 (PubMed )

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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."