Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2
Variant:p.E93K
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UFSP2

NM_018359.5:p.E93K

Associated Papers

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf

Genomic profiling of the UFMylation family genes identifies UFSP2 as a potential tumour suppressor in colon cancer.

Zhou J et al.

Clinical and Translational Medicine, 2021

34923774 (PubMed )
Supplement: CTM2-11-e642-s001.zip › Supplementary_Data._4.xlsx › Mutation_site
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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."