Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.N158D
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NUP214

NM_005085.4:p.N158D

Associated Papers

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.

Sakurai S et al.

Molecular Genetics and Metabolism, 2007

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Ferdinandusse S et al.

American Journal of Human Genetics, 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."