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Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations—An In-Silico Study
The retina-specific ATP-binding cassette transporter protein ABCA4 is responsible for properly continuing the visual cycle by removing toxic retinoid byproducts of phototransduction. Functional impairment caused by ABCA4 sequence variations is the leading cause of autosomal recessive inherited retin...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138569/ https://www.ncbi.nlm.nih.gov/pubmed/37108442 http://dx.doi.org/10.3390/ijms24087280 |