Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.P671L
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CDAN1

NM_138477.4:p.P671L

Associated Papers

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

Olijnik AA et al.

Journal of Medical Genetics, 2021

Clinical and molecular variability in congenital dyserythropoietic anaemia type I.

Tamary H et al.

British Journal of Haematology, 2005

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.

Dgany O et al.

American Journal of Human Genetics, 2002

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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."