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المؤلفون: Larissa Brussa Reis, Patricia Ashton-Prolla, Clévia Rosset, Maievi Fonini, Andreia Carina Turchetto-Zolet
المصدر: Genes, Vol 10, Iss 11, p 839 (2019)
Genes
Volume 10
Issue 11مصطلحات موضوعية: Primates, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, lcsh:QH426-470, Ubiquitin-Protein Ligases, neurofibromatosis type 1, Article, genotype–phenotype correlations, Evolution, Molecular, Mice, 03 medical and health sciences, Negative selection, Dogs, 0302 clinical medicine, Ubiquitin, Genetics, medicine, Animals, Humans, Selection, Genetic, Neurofibromatosis, neoplasms, Gene, Genetics (clinical), Neurofibromin 1, biology, Phylogenetic tree, phylogenetic analysis, microdeletions, medicine.disease, Phenotype, eye diseases, Rats, nervous system diseases, RING finger domain, lcsh:Genetics, 030104 developmental biology, Severe phenotype, 030220 oncology & carcinogenesis, biology.protein, Cattle, Gene Deletion
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08c9213450c8b59f65ec6fccbc5aaae9Test
https://www.mdpi.com/2073-4425/10/11/839Test -
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المؤلفون: Jian Wang, Jiwen Wang, Ruen Yao, Xiumin Wang, Yiping Shen, Tingting Yu, Yufei Xu, Li Yu
المصدر: Genes, Vol 10, Iss 11, p 847 (2019)
Genes
Volume 10
Issue 11مصطلحات موضوعية: Male, 0301 basic medicine, China, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, lcsh:QH426-470, Short stature, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Mutation Rate, neurofibromatosis 1, Genetics, medicine, Humans, Neurofibromatosis, Child, Gene, Exome, neoplasms, Genetics (clinical), Likely pathogenic, Sanger sequencing, Neurofibromin 1, novel variants, business.industry, Infant, café-au-lait macules, medicine.disease, Phenotype, eye diseases, nervous system diseases, short stature, lcsh:Genetics, 030104 developmental biology, Child, Preschool, symbols, Female, Presentation (obstetrics), medicine.symptom, business, 030217 neurology & neurosurgery, exome
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::585aba7a34c9843e78403b4ad9eb9e85Test
https://www.mdpi.com/2073-4425/10/11/847Test