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Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma
BACKGROUND: Cone-rod dystrophy (CORD) caused by pathogenic variants in CFAP410 is a very rare disease. The mechanisms by which the variants caused the disease remained largely unknown. CFAP410 pathogenic variants were identified in a cone-rod dystrophy with macular staphyloma patient. We explored th...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601463/ https://www.ncbi.nlm.nih.gov/pubmed/37901396 http://dx.doi.org/10.3389/fmed.2023.1216427 |