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[P2-02-12]COL1A1 C-propeptide variant p.Tyr1408Cys potentially altering disulfide bond causes osteogenesis imperfecta type 3
Daisuke Watanabe1, Nobuyuki Katsumata1, Tomohiro Saito2, Reina Murasawa1, Reika Hagino2, Yasushi Murakami1, Tamao Shinohara1, Yuki Maebayashi1, Atsushi Nemoto1, Atsushi Naitoh1 (1.Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Yamanashi, Japan, 2.Department of Pediatrics, Yamanashi Prefectural Hospital, Yamanashi, Japan)
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