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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DOCK8

Variant:p.R398Q

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DOCK8

NM_203447.4:p.R398Q

hg38:chr9:334292 G>A

Associated Papers

Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort.

Li H et al.

Pharmacogenomics and Personalized Medicine, 2025

40955363 (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."