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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...

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Detalles Bibliográficos
Autores principales: Cevik, Senem, Biswas, Subhasis B., Biswas-Fiss, Esther E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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