Varaico: Literature-Extracted Genetic Variants

Gene:UBA52
Variant:p.R83H
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UBA52

NM_001033930.3:p.R83H

Associated Papers

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cong Y et al.

Autophagy, 2021

Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing.

Intarajak T et al.

Cancers, 2019

31336886 (PubMed )
Supplement: cancers-11-00977-s001.zip › supplementary_file › supplementary_table_2.xlsx › somati_normal_polyp

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

Shieh JJ et al.

The Journal of Biological Chemistry, 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."