HumanRECQHelicase Pathogenic Variants, Population Variation and “Missing” Diseases
نویسندگان
چکیده
منابع مشابه
Population genetics of rare variants and complex diseases.
OBJECTIVES Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high-throughput genome sequencing technologies is a central challenge faced by human geneticists today. We hypothesize that the variants involved in complex diseases are likely to exhibit non-neutral evolutionary signatures. Uncovering the evolutionary history of all variants is therefore ...
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Background: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins affects the determination of cell polarity, orientation, and morphogenesis of photoreceptors. Here, we report three novel pathogenic varia...
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1 Department of Orthopaedic and Traumatology, University of Rome ‘‘Tor Vergata”, School of Medicine, Rome, Italy 2 Fondazione IBSA for scientific research, Pambio, Switzerland 3 Department of Musculoskeletal Disorders, School of Medicine and Surgery, University of Salerno, Salerno, Italy, and Queen Mary University of London, Barts and the London School of Medicine and Dentistry, Centre for Spor...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2016
ISSN: 1059-7794
DOI: 10.1002/humu.23148