Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration

Keyphrases

• Autosomal Recessive 100%
• Gain-of-function mutation 100%
• Inherited Retinal Disease 100%
• Retinal Degeneration 100%
• Disease Genes 66%
• Minigene 66%
• Pathogenic Variants 66%
• Cone-rod Dystrophy 66%
• Splicing Assay 66%
• Israel 33%
• Photoreceptor 33%
• Metabolism 33%
• Genetic Association 33%
• United States 33%
• Hungary 33%
• Electrophysiological Examination 33%
• Standard of Care 33%
• Retinal Detachment 33%
• Unknown Function 33%
• Genome Sequencing 33%
• Blindness 33%
• HEK293 Cells 33%
• Ubiquitin 33%
• Exome Sequencing 33%
• Deleterious Effects 33%
• Molecular Identification 33%
• Age of Onset 33%
• Netherlands 33%
• DNA Detection 33%
• DNA Variants 33%
• Optical Coherence Tomography 33%
• Myopia 33%
• Biallelic 33%
• Retinal pigment Epithelium 33%
• DNA Modification 33%
• Monogenic 33%
• Aberrant Splicing 33%
• Missing Heritability 33%
• Ophthalmological 33%
• Diopter 33%
• Nonsyndromic 33%
• Acceptor Splice Site 33%
• Macular 33%
• Retinal Imaging 33%
• First Symptom 33%
• Fundus Autofluorescence 33%
• Ocular Phenotype 33%
• UBAP1 33%
• Computer-assisted Data Analysis 33%

Medicine and Dentistry

• Autosomal Recessive Inheritance 100%
• Retina Disease 100%
• Retina Degeneration 100%
• Diseases 66%
• Retinal Detachment 33%
• Autofluorescence 33%
• Genome Sequencing 33%
• Retinal Imaging 33%
• Optical Coherence Tomography 33%
• Exome Sequencing 33%
• Retinal Pigment Epithelium 33%
• Heritability 33%
• Ubiquitin 33%
• Photoreceptor 33%
• Cone Rod Dystrophy 33%
• Genetic Association 33%
• Rod-Cone Dystrophy 33%

Biochemistry, Genetics and Molecular Biology

• Minigene 100%
• Autosomal Recessive Inheritance 100%
• Genetic Association 50%
• Metabolic Pathway 50%
• Genotyping 50%
• Photosynthetic Pigment 50%
• Ubiquitin 50%
• Autofluorescence 50%
• Genome Sequencing 50%
• Photoreceptor Cell 50%
• Exome Sequencing 50%