Varaico: Literature-Extracted Genetic Variants

Gene:SEC23B
Variant:p.C74Splc
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SEC23B

NM_006363.6:p.C74Splc

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

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

Zhang H et al.

Annals of Hematology, 2019

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Kim B et al.

Plos One, 2019

30840646 (PubMed )
Supplement: pone.0212228.s002.pdf

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.

Bianchi P et al.

British Journal of Haematology, 2016

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

Punzo F et al.

Orphanet Journal of Rare Diseases, 2011

Congenital dyserythropoietic anemias.

Iolascon A et al.

Current Opinion in Hematology, 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."