Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L349P
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ETV6

NM_001987.5:p.L349P

Associated Papers

Importins recognize the winged-helix fold of ETS transcription factors to mediate nuclear import.

McConville BM et al.

Biorxiv : the Preprint Server for Biology, 2026

Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia.

Wagner JN et al.

Biomedicines, 2023

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 2021

ETV6-related thrombocytopenia and leukemia predisposition.

Di Paola J et al.

Blood, 2019

Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.

Duployez N et al.

European Journal of Haematology, 2018

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

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

Poggi M et al.

Haematologica, 2017

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.

Melazzini F et al.

Haematologica, 2016

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.

Topka S et al.

Plos Genetics, 2015

[Acute lymphoblastic leukemia: a genomic perspective].

Jiménez-Morales S et al.

Boletin Medico Del Hospital Infantil De Mexico, 0

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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."