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The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1305 - 1315
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2018, Volume 13, Issue 12, pp. e0207958 - e0207958
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2018, Volume 27, Issue 4, pp. 614 - 624
Abstract Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is associated with different groups of genes, including those... 
MUTATIONS CAUSE | DISRUPTION | ZEBRAFISH | VARIANTS | INTERACTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | CILIOPATHY | REGULATORS | CILIOGENESIS | IDENTIFICATION | Young Adult | Carrier Proteins - genetics | Exome - genetics | Humans | Retinitis Pigmentosa - genetics | Adult | Female | Mutation - genetics | Index Medicus
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2017, Volume 54, Issue 9, pp. 624 - 632
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, pp. e0131679 - e0131679
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 253 - 264
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the... 
RHODOPSIN GENE | CHIP-SEQ REVEALS | FLAGELLAR LENGTH | RETINAL DISEASE | TRANSCRIPTIONAL NETWORK | KINASE | MOUSE | GENETICS & HEREDITY | CRX | GENOME BROWSER DATABASE | FAMILY | Genes, Recessive - genetics | Homeodomain Proteins - metabolism | Humans | Middle Aged | Genetic Loci - genetics | Molecular Sequence Data | Male | Young Adult | Adult | Female | Transcription, Genetic | Cilia - enzymology | Protein-Serine-Threonine Kinases - metabolism | Amino Acid Sequence | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Chromosome Mapping | Mutation - genetics | Sequence Analysis, DNA | Regulatory Sequences, Nucleic Acid - genetics | Cilia - genetics | Retinitis Pigmentosa - enzymology | Animals | Rhodopsin - genetics | Pedigree | Trans-Activators - metabolism | Mice | Protein-Serine-Threonine Kinases - chemistry | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Ciliary body | Chromosome mapping | Usage | Retinitis pigmentosa | Physiological aspects | Causes of | Genetic aspects | Nucleotide sequencing | Eye diseases | Mutation | Kinases | Genes | Rodents | Polymorphism | Animal models | Transcription factors | retinal degeneration | Nonsense mutation | Amino acids | Data processing | MAP kinase | Retina | Missense mutation | Photoreceptors | Gene mapping | Cilia | Index Medicus
Journal Article