Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R725W
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CDAN1

NM_138477.4:p.R725W

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

MMS22L is a novel key actor of normal and pathological erythropoiesis.

Colin E et al.

Hemasphere, 2025

Severe Neonatal Anemia with Multi-Organ Failure, Extreme Placentomegaly, and Placental Megaloblastic Erythroblastosis as Features in Identifying Congenital Dyserythropoietic Anemia Type 1: A Case Report.

Roose O et al.

Neonatology, 2025

Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients.

Marra R et al.

American Journal of Hematology, 2024

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

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Moreno-Carralero MI et al.

European Journal of Haematology, 2018

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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."