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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
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
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
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
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
Russo R et al.
American Journal of Hematology, 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
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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