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1دورية أكاديمية
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المؤلفون: Noriko Miyake, Mert Osman Topkar, Gen Nishimura, Long Guo, Ozge K Karalar, Naomichi Matsumoto, Zheng Wang, Nursel Elcioglu, Shiro Ikegawa, Yuma Sakamoto
المصدر: Journal of human genetics. 63(6)
مصطلحات موضوعية: 0301 basic medicine, Biallelic Mutation, Adolescent, Turkey, 030105 genetics & heredity, Biology, Polymerase Chain Reaction, 03 medical and health sciences, Exon, Genetic Heterogeneity, Exon trapping, Exome Sequencing, Genetics, medicine, Humans, Allele, Genetics (clinical), Exome sequencing, Alleles, Receptor Activator of Nuclear Factor-kappa B, Genetic heterogeneity, Osteopetrosis, Exons, medicine.disease, Introns, 030104 developmental biology, Mutation (genetic algorithm), Mutation, Female, RNA Splice Sites, Osteosclerosis