Varaico: Literature-Extracted Genetic Variants

Gene:DAG1
Variant:p.R312K
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DAG1

NM_004393.6:p.R312K

Associated Papers

Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.

Vajsar J et al.

Neuromuscular Disorders : Nmd, 2006

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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."