Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R687C
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CDAN1

NM_138477.4:p.R687C

Associated Papers

TMPRSS6 Non-Coding Variants in the Expression of Iron Refractory Iron Deficiency Anemia in Monoallelic Subjects.

Hoving V et al.

Genes, 2026

Ropeginterferon alfa-2b as a promising alternative to conventional interferon in CDA type 1: a case report of two siblings.

Yang TW et al.

Clinical and Experimental Medicine, 2025

Discovering a novel pathogenic CDAN1 variant using exome sequencing and bioinformatics analysis.

Cai LH et al.

Annals of Hematology, 2023

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Miao M et al.

Bmc Medical Genomics, 2022

35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data

[Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis].

Wang Y et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2021

Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis.

Liu S et al.

Pediatric Hematology and Oncology, 0

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