Varaico: Literature-Extracted Genetic Variants

Gene:UBE3D
Variant:p.V379M
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UBE3D

NM_198920.3:p.V379M

Associated Papers

Conditional loss of Ube3d in the retinal pigment epithelium accelerates age-associated alterations in the retina of mice.

Tao T et al.

The Journal of Pathology, 2023

UBE3D Is Involved in Blue Light-Induced Retinal Damage by Regulating Double-Strand Break Repair.

Xu N et al.

Investigative Ophthalmology & Visual Science, 2022

Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration.

den Hollander AI

Investigative Ophthalmology & Visual Science, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
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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."