Varaico: Literature-Extracted Genetic Variants

Gene:CIART
Variant:p.R65W
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CIART

NM_144697.4:p.R65W

Associated Papers

Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

Leinøe E et al.

British Journal of Haematology, 2017

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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."