Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.E78D
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THPO

NM_000460.4:p.E78D

Associated Papers

Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene.

Ghilardi N et al.

British Journal of Haematology, 1999

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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."