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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...
Autores principales: | Smieszek, Sandra P., Polymeropoulos, Christos M., Birznieks, Gunther, Polymeropoulos, Mihael H. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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 |
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