Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
Abstract Background To report newly found TSPAN12 mutations with a unique form of familial exudative vitreoretinopathy (FEVR) and find out the possible mechanism of a repeated novel intronic variant in TSPAN12 led to FEVR. Results Nine TSPAN12 mutations with a unique form of FEVR were detected by pa...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2024-03-01
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| Serie: | Human Genomics |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1186/s40246-024-00589-6 |
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