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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADK

Variant:p.Q309*

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ADK

NM_001123.4:p.Q309*

hg38:chr10:74708332 C>T

Associated Papers

MRI and (1)H-MRS in adenosine kinase deficiency.

Staufner C et al.

Neuroradiology, 2016

26993811 (PubMed )

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.

Staufner C et al.

Journal of Inherited Metabolic Disease, 2016

26642971 (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."