Associated Papers
Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.
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Supplement: 42003_2025_8461_MOESM4_ESM.xlsx › Supp._Data__2_Output_MORFEE
Biallelic disruption of DDX41 activity is associated with distinct genomic and immunophenotypic hallmarks in acute leukemia.
Tierens A et al.
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Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
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Neurology, 2013
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