Varaico: Literature-Extracted Genetic Variants

Gene:SEC23B
Variant:p.R123*
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SEC23B

NM_006363.6:p.R123*

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

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

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

Zhang H et al.

Annals of Hematology, 2019

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."