Varaico: Literature-Extracted Genetic Variants

Gene:UBB
Variant:p.D134N
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UBB

NM_018955.4:p.D134N

Associated Papers

Voltage-Gated Sodium Channels: A Therapeutic Target in Ischemic Heart Disease.

Zhang XL et al.

Reviews in Cardiovascular Medicine, 2025

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.

Niba ETE et al.

Genes, 2022

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

Motley AM et al.

American Journal of Human Genetics, 2002

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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."