Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R725W
Back to variants list

CDAN1

NM_138477.4:p.R725W

Associated Papers

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

Colin E et al.

Hemasphere, 2025

Severe Neonatal Anemia with Multi-Organ Failure, Extreme Placentomegaly, and Placental Megaloblastic Erythroblastosis as Features in Identifying Congenital Dyserythropoietic Anemia Type 1: A Case Report.

Roose O et al.

Neonatology, 2025

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

Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

Niss O et al.

Blood Cells, Molecules & Diseases, 2021

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Moreno-Carralero MI et al.

European Journal of Haematology, 2018

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."