Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.I248M
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ACTB

NM_001101.5:p.I248M

Associated Papers

Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.

Liu M et al.

Gene, 2013

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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."