Varaico: Literature-Extracted Genetic Variants

Gene:SEC23B
Variant:p.Q386R
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SEC23B

NM_006363.6:p.Q386R

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

37373084 (PubMed )
Supplement: ijms-24-09935-s001.zip › ijms-2384944-supplementary.pdf

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

Zhang H et al.

Annals of Hematology, 2019

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

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

Schwarz K et al.

Nature Genetics, 2009

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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."