Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.E100K
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MPL

NM_005373.3:p.E100K

Associated Papers

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.

Jalas C et al.

Blood Cells, Molecules & Diseases, 2011

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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."