Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.L43F
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THPO

NM_000460.4:p.L43F

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

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

Steinberg O et al.

Journal of Pediatric Hematology/oncology, 2007

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

Savoia A et al.

Haematologica, 2007

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

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.

Ballmaier M et al.

Blood, 2001

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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."