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Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data
Retinitis pigmentosa (RP) is an inherited retinal disease with a prevalence of 1/4,000. RP is highly genetically heterogeneous and there are over 80 genes associated with RP to date. One particular USH2A variant, p.C759F, has long been reported in RP cases but its pathogenicity was questioned by a r...
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| Publicado no: | Ophthalmic Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6084783/ https://ncbi.nlm.nih.gov/pubmed/29283788 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2017.1418388 |
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