Varaico: Literature-Extracted Genetic Variants

Gene:COX8A
Variant:p.M1R
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COX8A

NM_004074.3:p.M1R

Associated Papers

Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.

Burgin HJ et al.

Febs Letters, 2020

Genetics of the corneal endothelial dystrophies: an evidence-based review.

Aldave AJ et al.

Clinical Genetics, 2013

The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.

James PD et al.

Blood, 2007

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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."