Varaico: Literature-Extracted Genetic Variants

Gene:SEC23B
Variant:p.L178Q
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SEC23B

NM_006363.6:p.L178Q

Associated Papers

Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.

Méndez M et al.

Annals of Hematology, 2021

A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I).

Shroff M et al.

The Biochemical Journal, 2020

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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."