Yokohama City University · Graduate School of Medicine / Faculty of Medicine

Research keywordssplicing variant interpretation・exome sequencing・Mendelian disorders・ACMG criteria・ClinGen framework・neurodevelopmental genetics

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• その他リンク：論文
• Wiley論文
• A Case of CACNA1I‐Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum論文
• Atsuhiro Ozaki, Masamune Sakamoto, Satoko Kumada, Keisuke Hamada, Kazuhiro Ogata, Jun Ikezawa, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto論文

• Official profile