[S12] Advances in Rare Disease Research: From Genomic Diagnosis to Mechanism and Therapeutics

[S12-4] From long-read genomic diagnosis to international N-of-1 therapeutic development for rare diseases

Koyo Tsujikawa¹, Yosuke Nishio^1,2, Tomoo Ogi^1,2 (1. Rare Disease Genome Centre, Nagoya University, 2. Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University)

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