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Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population

Nana Sakakibara, Kandai Nozu, Tomohiko Yamamura, Tomoko Horinouchi, China Nagano, Ming Juan Ye, Shinya Ishiko, Yuya Aoto, Rini Rossanti, Riku Hamada, Nobuhiko Okamoto, Yuko Shima, Koichi Nakanishi, Masafumi Matsuo, Kazumoto Iijima, Naoya Morisada

2022Journal of Human Genetics21 citationsDOIOpen Access PDF

Topics & Concepts

CiliopathiesNephronophthisisGeneticsBiologyHuman geneticsCiliopathyComputational biologyStatistical geneticsDNA sequencingGeneGenomeGenomicsPhenotypeGenetic and Kidney Cyst DiseasesProtist diversity and phylogenyCystic Fibrosis Research Advances
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population | Litcius