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1دورية أكاديمية
المؤلفون: Islam, Farrah, Htun, Stephanie, Lai, Li‐Wen, Krall, Max, Poranki, Menitha, Martin, Pierre‐Marie, Sobreira, Nara, Wohler, Elizabeth S, Yu, Jingwei, Moore, Anthony T, Slavotinek, Anne M
المصدر: Clinical Genetics. 98(5)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Anophthalmos, Calcium-Binding Proteins, Cation Transport Proteins, Cell Adhesion Molecules, Coloboma, Consanguinity, Exome, Female, High-Throughput Nucleotide Sequencing, Humans, Kinesins, Male, Membrane Proteins, Microphthalmos, Mitochondrial Membrane Transport Proteins, Mutation, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, Exome Sequencing, Anophthalmia, cataract, CDON, Microphthalmia, TENM3, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9pk8m065Test
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2دورية أكاديمية
المؤلفون: Kuo, Debbie S, Sokol, Jared T, Minogue, Peter J, Berthoud, Viviana M, Slavotinek, Anne M, Beyer, Eric C, Gould, Douglas B
المصدر: PLOS ONE. 12(8)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Ophthalmology and Optometry, Clinical Research, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, Aetiology, Amino Acid Sequence, Cataract, Connexins, Female, Genetic Predisposition to Disease, HeLa Cells, Humans, Male, Mutation, Missense, Sequence Homology, Amino Acid, Hela Cells, General Science & Technology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5x99q7m4Test