Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
Multiomics Approach Reveal Novel Insights in FUS Driven Juvenile Amyotrophic Lateral Sclerosis: A Family Quartet Analysis.
Verma S et al.
Annals of Neurosciences, 2025
Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
Songdej D et al.
Annals of Hematology, 2024
A Case of Congenital Dyserythropoietic Anemia Masked by Hemoglobin H Disease.
Liao G et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2024
A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.
Wang S et al.
Molecular Cytogenetics, 2023
37649104 (PubMed )
Supplement: 13039_2023_654_MOESM1_ESM.xlsx › Sheet1
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Musri MM et al.
International Journal of Molecular Sciences, 2023
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
[New mutation site of SEC23B gene in type Ⅱ congenital erythrocythememia anemia: one case report and literatures review].
Chang LX et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2019
A case report of congenital erythropoietic anemia II in China with a novel mutation.
Zhang H et al.
Annals of Hematology, 2019
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia.
Wang Y et al.
Gene, 2018
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Yehia L et al.
American Journal of Human Genetics, 2015
[Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and HFE2 genes: a Chinese family survey].
Wang L et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2013
A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively.
Liu G et al.
British Journal of Haematology, 2012
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