Varaico: Literature-Extracted Genetic Variants

Gene:SEC23B
Variant:p.S436L
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SEC23B

NM_006363.6:p.S436L

Associated Papers

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.

Musri MM et al.

International Journal of Molecular Sciences, 2023

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 case report of congenital erythropoietic anemia II in China with a novel mutation.

Zhang H et al.

Annals of Hematology, 2019

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

Punzo F et al.

Orphanet Journal of Rare Diseases, 2011

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

Russo R et al.

American Journal of Hematology, 2010

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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."