Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.P694L
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CDAN1

NM_138477.4:p.P694L

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

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

Roy NBA et al.

British Journal of Haematology, 2019

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.

Lauhasurayotin S et al.

Npj Genomic Medicine, 2019

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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."