Varaico: Literature-Extracted Genetic Variants

Gene:CDIN1
Variant:p.L178Q
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CDIN1

NM_001321759.2:p.L178Q

Associated Papers

Anemia-associated mutations disrupt the CDIN1-Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA-I) disease.

Stojaspal M et al.

The Febs Journal, 2026

Using Patient Feedback to Improve Treatment Outcomes for Patients with Congenital Dyserythropoietic Anaemia Type I Receiving Interferon Therapy.

Frey K et al.

Journal of Clinical Medicine, 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

Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.

Méndez M et al.

Annals of Hematology, 2021

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.

Russo R et al.

Frontiers in Physiology, 2019

Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene.

Palmblad J et al.

American Journal of Hematology, 2018

Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a.

Rathe M et al.

Pediatric Blood & Cancer, 2018

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC et al.

Nature Genetics, 2015

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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."