Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R378Q
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ETV6

NM_001987.5:p.R378Q

Associated Papers

Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?

Ammeti D et al.

Genes, 2025

Risk prediction for clonal cytopenia: multicenter real-world evidence.

Xie Z et al.

Blood, 2024

38996210 (PubMed )
Supplement: BLOOD_BLD-2024-024756-mmc1.pdf

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
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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."