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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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Title: |
Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient |
Author: |
Katagiri, Satoshi Hosono, Katsuhiro Hayashi, Takaaki Murai, Noriyuki Wake, Eiichi Miyata, Ichiro Mizobuchi, Kei Kurata, Kentaro Matsuura, Tomokazu Nakano, Tadashi Hotta, Yoshihiro |
Appeared in: |
Documenta ophthalmologica |
Paging: |
Volume 141 () nr. 1 pages 77-88 |
Year: |
2020-01-29 |
Contents: |
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Publisher: |
Springer Berlin Heidelberg, Berlin/Heidelberg |
Source file: |
Elektronische Wetenschappelijke Tijdschriften |
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