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VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease by Hassan Saei, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah, Frederic Tores, Manon Mautret-Godefroy, Bertrand Knebelmann, Stéphane Burtey, Vincent Vuiblet, Corinne Antignac, Patrick Nitschké, Guillaume Dorval
Published 2023-07-01
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P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids... by Hassan Saei, Marie Boisson, Christelle Arrondel, Bruno Estebe, Nicolas Cagnard, Marc Bras, Vincent Morinière, Zaïna Aït Arkoub, Laurence Heidet, Olivier Gribouval, Patrick Nitschké, Corinne Antignac, Géraldine Mollet, Guillaume Dorval
Published 2024-01-01
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P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases by Hassan Saei, Jessica Kachmar, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah, Frederic Tores, Manon Mautret-Godefroy, Bertrand Knebelmann, Stéphane Burtey, Vincent Vuiblet, Corinne Antignac, Patrick Nitschké, Guillaume Dorval
Published 2024-01-01
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