Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Q347P
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ETV6

NM_001987.5:p.Q347P

Associated Papers

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

Ammeti D et al.

Genes, 2025

Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.

Capaci V et al.

Cells, 2024

Diagnostic value of genetic mutation analysis and mutation profiling of cell-free DNA in intraocular fluid for vitreoretinal lymphoma.

Chen X et al.

Cancer Communications (london, England), 2022

35920016 (PubMed )
Supplement: CAC2-42-1217-s001.xlsx › Supplementary_Table_S6

ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.

Faleschini M et al.

Haematologica, 2022

"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

Lassandro G et al.

Frontiers in Pediatrics, 2022

Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets.

Rodrigues JM et al.

Leukemia & Lymphoma, 2021

34080947 (PubMed )
Supplement: supplement_1.xlsx › Table_S6._Predicted_drivers
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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."