Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.R71Splc
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MPL

NM_005373.3:p.R71Splc

Associated Papers

CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.

Germeshausen M et al.

Haematologica, 2021

Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

Ballmaier M et al.

British Journal of Haematology, 2009

Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations.

Steinberg O et al.

Journal of Pediatric Hematology/oncology, 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."