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Long-read Sequencing Identifies an SVA_D Retrotransposon Insertion Deep Within the Intron Ofatp7aas a Novel Cause of Occipital Horn Syndrome

Naoko Yano,Pin Fee Chong,Kenji K. Kojima,Tomoichiro Miyoshi, Ahmad Luqmen-Fatah,Yu Kimura,Kengo Kora,Taisei Kayaki,Kanako Maizuru,Takahiro Hayashi,Atsushi Yokoyama,Masahiko Ajiro,Masatoshi Hagiwara,Teruyuki Kondo,Ryutaro Kira,Junko Takita,Takeshi Yoshida

Journal of Medical Genetics（2024）

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关键词
Neurology,Genetic Diseases, X-Linked,Pediatrics,Sequence Analysis
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