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Case report: A novel missense variant in melanopsin associates with delayed sleep phenotype: Whole genome sequencing study

Melanopsin (OPN4) is a blue light-sensitive opsin-type G-protein coupled receptor. It is highly expressed in photosensitive retinal ganglion cells which mediate responses to light, including regulation of sleep, circadian photoentrainment, and pupillary light response. Mutations in OPN4 were shown t...

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Detalles Bibliográficos
Autores principales: Smieszek, Sandra P., Polymeropoulos, Christos M., Birznieks, Gunther, Polymeropoulos, Mihael H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561615/
https://www.ncbi.nlm.nih.gov/pubmed/36246649
http://dx.doi.org/10.3389/fgene.2022.896192