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Eriko Aoki, Noriyoshi Manabe, Shiho Ohno, Taiga Aoki, Jun-Ichi Furukawa, Akira Togayachi, Kiyoko Aoki-Kinoshita, Jin-Ichi Inokuchi, Kenji Kurosawa, Tadashi Kaname, et al. Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL. Molecular Genetics and Metabolism Reports. 2023. 37. 101016-101016
Genes to diagnosis and therapy in glycogenomics disorders:ヒト糖鎖関連希少疾患GDP-フコース輸送体欠損症を例として
(第45回日本分子生物学会年会、(ワークショップ3PW-05)糖鎖が関わる難治性・希少疾患:基礎から診断・治療まで 2022)