Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H3D
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HBB

NM_000518.5:p.H3D

Associated Papers

A novel function for the U2AF 65 splicing factor in promoting pre-mRNA 3'-end processing.

Millevoi S et al.

Embo Reports, 2002

Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia.

Fournier CM et al.

Blood, 1997

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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."