A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2024-03-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00269-w |
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| _version_ | 1832594932578123776 |
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| author | Hasan Azizi Mortaza Bonyadi Abbas Rafat |
| author_facet | Hasan Azizi Mortaza Bonyadi Abbas Rafat |
| author_sort | Hasan Azizi |
| collection | DOAJ |
| format | Article |
| id | doaj-art-c4b2c72b6cb94cbb9cc09bd679393781 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-03-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-c4b2c72b6cb94cbb9cc09bd6793937812025-01-19T12:16:01ZengNature Publishing GroupHuman Genome Variation2054-345X2024-03-011111410.1038/s41439-024-00269-wA novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndromeHasan Azizi0Mortaza Bonyadi1Abbas Rafat2Animal Biology Department, Faculty of Natural Sciences, University of TabrizCenter of Excellence for Biodiversity, Faculty of Natural Sciences, University of TabrizDepartment of Animal Science, University of Tabrizhttps://doi.org/10.1038/s41439-024-00269-w |
| spellingShingle | Hasan Azizi Mortaza Bonyadi Abbas Rafat A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome Human Genome Variation |
| title | A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome |
| title_full | A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome |
| title_fullStr | A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome |
| title_full_unstemmed | A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome |
| title_short | A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome |
| title_sort | novel splice site variant of the bbs2 gene in a patient with bardet biedl syndrome |
| url | https://doi.org/10.1038/s41439-024-00269-w |
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