Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome

Medicine & Life Sciences

• Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 100%
• Exons 33%
• Large Ribosome Subunits 11%
• RNA Precursors 8%
• Skin Abnormalities 5%
• Ribosomal RNA 4%
• RNA Splice Sites 4%
• Human Genetics 4%
• Nonsense Codon 4%
• Molecular Pathology 4%
• Alopecia 3%
• Hair 3%
• Computer Simulation 3%
• Inborn Genetic Diseases 3%
• Yeasts 2%
• Proteins 2%
• Amino Acids 2%
• Pediatrics 2%
• Survival 2%
• Growth 1%