Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L129_I140delFs
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ETV6

NM_001987.5:p.L129_I140delFs

Associated Papers

Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia.

Kozubik KS et al.

Platelets, 2021

Germline ETV6 mutations and predisposition to hematological malignancies.

Feurstein S et al.

International Journal of Hematology, 2017

ETV6 in hematopoiesis and leukemia predisposition.

Hock H et al.

Seminars in Hematology, 2017

ETV6 mutations define a new cancer predisposition syndrome.

Kirkpatrick G et al.

Oncotarget, 2015

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

Noetzli L et al.

Nature Genetics, 2015

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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."