Varaico: Literature-Extracted Genetic Variants

Gene:COX8A
Variant:p.R17R
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COX8A

NM_004074.3:p.R17R

Associated Papers

Splicing analysis of 26 F8 nucleotide variations using a minigene assay.

Jourdy Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Characterization of four novel molecular changes in the promoter region of the factor VIII gene.

Nougier C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014

Structural and functional role of helices I and II in rhodopsin. A novel interplay evidenced by mutations at Gly-51 and Gly-89 in the transmembrane domain.

Bosch L et al.

The Journal of Biological Chemistry, 2003

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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."