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Journal Article
PLoS ONE, 11/2015, Volume 10, Issue 11
Background Next generation sequencing (NGS) offers a rapid and comprehensive method of screening for mutations associated with retinitis pigmentosa and related... 
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 694 - 704
Purpose: With the advent of gene therapies for inherited retinal degenerations (IRDs), genetic diagnostics will have an increasing role in clinical... 
RPGRIP1 | genome sequencing | Inherited retinal degeneration | Noncoding pathogenic variants | Intronic pathogenic variants | LOCALIZATION | EFFICACY | SAFETY | MODEL | IDENTIFICATION | COPY-NUMBER VARIATION | GENETICS & HEREDITY | GENE-THERAPY | MUTATIONS | Genomes | Index Medicus
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 3/2019, Volume 21, Issue 3, pp. 694 - 704
Journal Article
Molecular Vision, ISSN 1090-0535, 10/2017, Volume 23, pp. 695 - 706
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 10/2018, Volume 59, Issue 12, pp. 4812 - 4820
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 11/2013, Volume 54, Issue 13, pp. 8041 - 8050
PURPOSE. Mutations in GPR179, which encodes the G protein-coupled receptor 179, lead to autosomal recessive complete (c) congenital stationary night blindness... 
Pathogenicity | Trafficking defect | Mini-gene approach | cCSNB | Expression and localization | GPR179 | LIGHT RESPONSE | ULTRASTRUCTURAL-LOCALIZATION | SYNAPTIC-TRANSMISSION | ROD BIPOLAR CELLS | mini-gene approach | G-PROTEIN | RECEPT