Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R649W
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CDAN1

NM_138477.4:p.R649W

Associated Papers

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

Whole-exome sequencing for genetic diagnosis of idiopathic liver injury in children.

Lülecioğlu AA et al.

Journal of Cellular and Molecular Medicine, 2024

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

Roy NBA et al.

British Journal of Haematology, 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."