Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.R177Q
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EPO

NM_000799.4:p.R177Q

Associated Papers

Establishment of a Diamond-Blackfan anemia like model in zebrafish.

Ling Y et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2024

The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.

Pelagiadis I et al.

Children (basel, Switzerland), 2023

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.

Pecci A et al.

Embo Molecular Medicine, 2018

Congenital Anemia Due to Erythropoietin Gene Mutation Presenting With Diamond-Blackfan Anemia-like features.

AboGhayyada I et al.

Journal of Investigative Medicine High Impact Case Reports, 0

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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."