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Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient

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Description scientific article published on 29 January 2020
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author: Yoshihiro Hotta  Takaaki Hayashi  Katsuhiro Hosono  Kei Mizobuchi  Satoshi Katagiri 

Publication date January 29, 2020
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