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O19: Antisense oligonucleotide targeting a linked-SNP provides allele-specific and effective knockdown to a dominant negative SPTAN1 pathogenic variant by Christiana Wang, Shenglan Li, Sen Zhao, Jefferson Sinson, Nhi Ho, Blake Vuocolo, Gary Clark, Sandesh Nagamani, Pengfei Liu
Published 2024-01-01
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Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss by Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, The Texome Project, Michael F. Wangler, Sandesh Nagamani
Published 2024-02-01
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