Associated Papers
A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal.
McConville M et al.
Science Advances, 2025
40238870 (PubMed )
Supplement: sciadv.adu4058_sm.pdf
Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals.
McConville BM et al.
Biorxiv : the Preprint Server for Biology, 2024
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
Zhang MY et al.
Nature Genetics, 2015
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