Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.E16K
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DYNAP

NM_173629.3:p.E16K

Associated Papers

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

Ballios BG et al.

Eye (london, England), 2023

Missense mutations outside the catalytic domain of the ABO glycosyltransferase can cause weak blood group A and B phenotypes.

Seltsam A et al.

Transfusion, 2005

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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."