Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.F52L
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CDAN1

NM_138477.4:p.F52L

Associated Papers

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

Genetic and functional insights into CDA-I prevalence and pathogenesis.

Olijnik AA et al.

Journal of Medical Genetics, 2021

Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

Niss O et al.

Blood Cells, Molecules & Diseases, 2021

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

Roy NBA et al.

British Journal of Haematology, 2019

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

Roy NB et al.

British Journal of Haematology, 2016

Clinical and molecular variability in congenital dyserythropoietic anaemia type I.

Tamary H et al.

British Journal of Haematology, 2005

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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."