Robuta

https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.896192/full
Melanopsin (OPN4) is a blue light-sensitive opsin-type G-protein coupled receptor. It is highly expressed in photosensitive retinal ganglion cells which medi...
case reportmissense variantfrontiersnovelmelanopsin
https://pubmed.ncbi.nlm.nih.gov/36413997/
Recommendations from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence...
missense variantcalibrationcomputationaltoolspathogenicity
https://www.mdpi.com/2073-4425/11/7/774?fbclid=IwAR0fBRZuRMYK4VL6jpLw__x1z1l9kC2-fOpa5Cz43L8NCYIzvVzr-ohGjW4
Four female Shetland Sheepdogs with hypertonic paroxysmal dyskinesia, mainly triggered by exercise and stress, were investigated in a retrospective...
missense variantmitochondrialshetlandsheepdogsparoxysmal