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    A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1

    A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1 by Joseph Farris, Camila Dergam-Larson, Madeline Lopour, Kahlen Darr, Lisa A. Schimmenti, Brittni A. Scruggs, Laura J. Lambert, Eric W. Klee

    Published 2025-05-01
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