Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.F126fs
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MPL

NM_005373.3:p.F126fs

Associated Papers

Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case.

Vanholder IM et al.

Journal of Paediatrics and Child Health, 2022

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.

Bhai P et al.

Current Oncology (toronto, Ont.), 2022

36290845 (PubMed )
Supplement: curroncol-29-00568-s001.zip › Supplementary_File_I.xlsx › All_patients_Erythrocytosis

Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.

Atmar K et al.

Frontiers in Immunology, 2022

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