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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DAG1

Variant:p.V24fs

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DAG1

NM_004393.6:p.V24fs

hg38:chr3:49510604 GTG>N

Associated Papers

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

Traverso M et al.

European Journal of Human Genetics : Ejhg, 2024

38177406 (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."