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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETV6

Variant:p.H383R

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ETV6

NM_001987.5:p.H383R

hg38:chr12:11884583 A>G

Associated Papers

Rare germline ETV6 variant associated with thrombocytopenia and acute leukemia.

Rajendra Kurup A et al.

Annals of Hematology, 2025

40858768 (PubMed )

Preclinical evaluation of eltrombopag in a PDX model of myelodysplastic syndromes.

Schmitt N et al.

Leukemia, 2022

34172896 (PubMed )

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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."