Varaico: Literature-Extracted Genetic Variants

Gene:SEC23B
Variant:p.R503Q
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SEC23B

NM_006363.6:p.R503Q

Associated Papers

A Case of Congenital Dyserythropoietic Anemia Masked by Hemoglobin H Disease.

Liao G et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2024

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

Musri MM et al.

International Journal of Molecular Sciences, 2023

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

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

Iolascon A et al.

Haematologica, 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."