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Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation

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Authors: Takeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, Shinichi Kameyama, Hiromi Fukuda, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Hiroaki Adachi, Naomichi Matsumoto
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  • Published on: August 18 2023
  • Source: Journal of Human Genetics

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