Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.D128Y
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MPL

NM_005373.3:p.D128Y

Associated Papers

Congenital Amegakaryocytic Thrombocytopenia Presenting With Features of Immune Thrombocytopenia: A Case Report.

Umer A et al.

Cureus, 2026

Cryo-EM structure of the extracellular domain of murine Thrombopoietin Receptor in complex with Thrombopoietin.

Sarson-Lawrence KTG et al.

Nature Communications, 2024

Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

Ballmaier M et al.

British Journal of Haematology, 2009

19388932 (PubMed )
Supplement: supplement_1.pdf

Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.

Fox NE et al.

Experimental Hematology, 2009

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

Savoia A et al.

Haematologica, 2007

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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."