Isoform analysis of heterozygous putative splicing variants at the allele level using nanopore long-read sequencing by Kokoro Ozaki, Takashi Irioka, Shohei Noma, Akira Machida, Moe Fukunaga, Tatsuro Murano, Chitose Takahashi, Michihira Tagami, Tsugumi Kawashima, Tomoko Hirata, Yuki Yasuoka, Hiroya Kuwahara, Toshiyuki Araki, Ken Yagi, Hidehiro Mizusawa, Kinya Ishikawa, Yasushi Okazaki, Takanori Yokota

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Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy by Kokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, Atsushi Nishiyama, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Masaru Shimura, Shohei Noma, Yohei Sugiyama, Michihira Tagami, Moe Fukunaga, Hiroko Kinoshita, Tomoko Hirata, Wataru Suda, Yasuhiro Murakawa, Piero Carninci, Akira Ohtake, Kei Murayama, Yasushi Okazaki

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