Varaico: Literature-Extracted Genetic Variants

Gene:COPZ1
Variant:p.E151*
Back to variants list

COPZ1

NM_016057.3:p.E151*

Associated Papers

A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.

Borbaran Bravo N et al.

Blood, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."