Varaico: Literature-Extracted Genetic Variants

Gene:COX8A
Variant:p.S46S
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COX8A

NM_004074.3:p.S46S

Associated Papers

A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency.

Bolton-Maggs PH et al.

Journal of Thrombosis and Haemostasis : Jth, 2004

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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."