Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.L269fs
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THPO

NM_001290003.1:p.L269fs

Associated Papers

Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.

Capaci V et al.

Haematologica, 2023

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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."