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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2009, Volume 106, Issue 46, pp. 19581 - 19586
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2008, Volume 40, Issue 4, pp. 443 - 448
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
Nature Genetics, ISSN 1061-4036, 2011, Volume 43, Issue 1, pp. 23 - 26
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2012, Volume 49, Issue 8, pp. 502 - 512
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 971 - 980
Journal Article
Human Mutation, ISSN 1059-7794, 2010, Volume 31, Issue 6, pp. E1506 - E1518
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2012, Volume 7, Issue 8, pp. e42242 - e42242
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2014, Volume 51, Issue 11, pp. 724 - 736
Journal Article