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A novel missense mutation of COL5A2 in a patient with Ehler..:

Watanabe, Miki ; Nakagawa, Ryuji ; Naruto, Takuya...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115132/20200825160045210599/hgv_3_16030.pdf.  , 2021