Varaico: Literature-Extracted Genetic Variants

Gene:COPZ2
Variant:p.A19insFs
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COPZ2

NM_016429.4:p.A19insFs

Associated Papers

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S1.The_information_of_annotated_gene_mutations1.xlsx › ___

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Damgaard RB et al.

Cell, 2016

27523608 (PubMed )
Supplement: mmc2.xlsx › Homozygous_Variants_S2
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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."