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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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| Vydáno v: | Ophthalmic Genet |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2017
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| Témata: | |
| On-line přístup: | 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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