Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.T44I
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MPL

NM_005373.3:p.T44I

Associated Papers

In Silico Evaluation of Coding and Non-Coding nsSNPs in the Thrombopoietin Receptor (MPL) Proto-Oncogene: Assessing Their Influence on Protein Stability, Structure, and Function.

Al-Nakhle HH et al.

Current Issues in Molecular Biology, 2023

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.

Lo C et al.

Journal of Pediatric Hematology/oncology, 2018

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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."