Varaico: Literature-Extracted Genetic Variants

Gene:DAG1
Variant:p.V310delFs
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DAG1

NM_004393.6:p.V310delFs

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

A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia.

Fan L et al.

Human Genome Variation, 2022

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