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المؤلفون: Danping Huang, Hongwei Wang, Zhi Xie, Yizhi Liu, Bingying Lin, Song Gao, Qian Yu, Shang-Qian Xie, Wei Li
المصدر: Human Molecular Genetics. 27:2357-2366
مصطلحات موضوعية: 0301 basic medicine, Cryptophthalmos, Mutation, Missense, Anal Canal, Biology, Compound heterozygosity, Frameshift mutation, 03 medical and health sciences, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Genetic Predisposition to Disease, Molecular Biology, Fraser syndrome, Genetics (clinical), Isolated cryptophthalmos, Extracellular Matrix Proteins, Hypertelorism, Homozygote, Infant, Articles, Receptors, Interleukin, General Medicine, medicine.disease, Molecular biology, Protein Structure, Tertiary, Coloboma, 030104 developmental biology, Child, Preschool, Mutation, Mutation (genetic algorithm), FRAS1, Female, Fraser Syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dad38b3f83d6f76c5d5de2f8a2374140
https://doi.org/10.1093/hmg/ddy144