Varaico: Literature-Extracted Genetic Variants

Gene:COPB1
Variant:p.R898L
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COPB1

NM_001144061.2:p.R898L

Associated Papers

Exploring Baralle-Macken Syndrome: A Novel COPB1 Mutation in Consanguineous Pakistani Siblings.

Khalid Z et al.

American Journal of Medical Genetics. Part A, 2025

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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."