Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.L102L
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THPO

NM_000460.4:p.L102L

Associated Papers

Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

Ballmaier M et al.

British Journal of Haematology, 2009

19388932 (PubMed )
Supplement: supplement_1.pdf

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

Germeshausen M et al.

Human Mutation, 2006

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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."