Varaico: Literature-Extracted Genetic Variants

Gene:SEC23B
Variant:p.R190*
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SEC23B

NM_006363.6:p.R190*

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

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp003.xlsx › Supp_Table_5_-_mutations

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

Zhang H et al.

Annals of Hematology, 2019

Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII.

Pellegrin S et al.

British Journal of Haematology, 2019

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Moreno-Carralero MI et al.

European Journal of Haematology, 2018

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.

Satchwell TJ et al.

Haematologica, 2013

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

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

Bianchi P et al.

Human Mutation, 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."