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Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies by Dalila Capasso, Roberta Zeuli, Gavin Arno, Michael Kwint, Raoul Timmermans, Karla A. Ruiz-Ceja, Marianthi Karali, Francesca Simonelli, Sabrina Signorini, Enza Maria Valente, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing, Daan M. Panneman, Suzanne E. de Bruijn
Published 2025-07-01Get full text
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Variants in NR6A1 cause a novel oculo vertebral renal syndrome by Uma M. Neelathi, Ehsan Ullah, Aman George, Mara I. Maftei, Elangovan Boobalan, Daniel Sanchez-Mendoza, Chloe Adams, David McGaughey, Yuri V. Sergeev, Ranya AI Rawi, Amelia Naik, Chelsea Bender, Irene H. Maumenee, Michel Michaelides, Tun Giap Tan, Siying Lin, Rafael Villasmil, Delphine Blain, Robert B. Hufnagel, Gavin Arno, Rodrigo M. Young, Bin Guan, Brian P. Brooks
Published 2025-07-01Get full text
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