Presentation Information
[P1-03-6]Expanding the Clinical Spectrum of CAD Deficiency: Functional and Clinical Insights from Novel Missense Variants
Yoko Nakajima1, Asahito Hama2, Manabu Wakamatsu3, Yuta Sudo1, Yasuaki Yasuda1, Hideki Muramatsu3, Tetsuya Ito1 (1.Department of Pediatrics, Fujita Health University School of Medicine, Japan, 2.Department of Hematology and Oncology, Childrenʼs Medical Center, Japanese Red Cross Aichi Medical Center Nagoya First Hospital, Nagoya, Japan, 3.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan)
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