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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETV6

Variant:p.S2_P5del4

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ETV6

NM_001987.5:p.S2_P5del4

hg38:chr12:11650130 GTCTGAGACTCCT>G

Associated Papers

Mutations of RUNX1 in families with inherited thrombocytopenia.

De Rocco D et al.

American Journal of Hematology, 2017

28240786 (PubMed )

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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."