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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DAG1

Variant:p.V727M

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DAG1

NM_004393.6:p.V727M

hg38:chr3:49532690 G>A

Associated Papers

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.

Chakravorty S et al.

Muscle & Nerve, 2019

30990900 (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."