Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.A339T
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TFEB

NM_001271944.2:p.A339T

Associated Papers

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.

David D et al.

Nephron, 2019

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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."