A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.
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| Title: | A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy. |
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| Authors: | Elbagoury, Nagham Maher1,2 (AUTHOR) nm.el-bagoury@nrc.sci.eg, Tawfik, Caroline Atef3,4 (AUTHOR), Abdel-Aleem, Asmaa Fawzy1,2 (AUTHOR), Fathy, Heba Mahmoud1,2 (AUTHOR), Baddar, Dina Nabil4,5 (AUTHOR), Essawi, Mona Lotfi1,2 (AUTHOR) |
| Source: | Orphanet Journal of Rare Diseases. 5/25/2025, Vol. 20 Issue 1, p1-11. 11p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 17501172 |
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| DOI: | 10.1186/s13023-025-03813-1 |
