Varaico: Literature-Extracted Genetic Variants

Gene:DIPK2B
Variant:p.R143L
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DIPK2B

NM_176819.4:p.R143L

Associated Papers

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.

Pupavac M et al.

Human Mutation, 2016

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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."