Varaico: Literature-Extracted Genetic Variants

Gene:SEC23B
Variant:p.Q468_H469Splc
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SEC23B

NM_006363.6:p.Q468_H469Splc

Associated Papers

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.

Russo R et al.

Blood Cells, Molecules & Diseases, 2013

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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."