Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.D1043V
Back to variants list

CDAN1

NM_138477.4:p.D1043V

Associated Papers

Anemia-associated mutations disrupt the CDIN1-Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA-I) disease.

Stojaspal M et al.

The Febs Journal, 2026

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

Colin E et al.

Hemasphere, 2025

Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.

Scott C et al.

Haematologica, 2021

Congenital dyserythropoietic anemia and drug-induced liver injury present as bland cholestasis: A case report.

Han Y et al.

Experimental and Therapeutic Medicine, 2021

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."