Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.L709del1
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CDAN1

NM_138477.4:p.L709del1

Associated Papers

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

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

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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."