Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.D336Y
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UBC

NM_021009.7:p.D336Y

Associated Papers

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Gangfuß A et al.

Journal of Neurology, 2024

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Brodehl A et al.

Biophysical Reviews, 2018

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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."