Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Y401H
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ETV6

NM_001987.5:p.Y401H

Associated Papers

Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.

Zaninetti C et al.

British Journal of Haematology, 2024

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

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

Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition.

Baptista RLR et al.

Frontiers in Oncology, 2017

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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."