Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R259Q
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ETV6

NM_001987.5:p.R259Q

Associated Papers

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.

Gök V et al.

Research and Practice in Thrombosis and Haemostasis, 2025

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3

The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Anwar N et al.

Bmc Genomics, 2021

34915860 (PubMed )
Supplement: 12864_2021_8221_MOESM2_ESM.xlsx › Sheet1

Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.

Nishii R et al.

Blood, 2021

Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.

Moriyama T et al.

The Lancet. Oncology, 2015

26522332 (PubMed )
Supplement: NIHMS737731-supplement-1.pdf

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Zhang MY 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."