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المؤلفون: Susannah Cornes, James Snyder, Patrick Y. Wen, Jill S. Barnholtz-Sloan, Daniel J. Brat, John Quackenbush, Raymond Y. Huang, Harrison X. Bai, Jong Woo Lee, Erwin G. Van Meir, David A. Gutman, Vikram R. Rao, Jennifer M. Eschbacher, Rebecca E. Fasano
المصدر: Neuro-oncology Advances
مصطلحات موضوعية: Mutant, Wild type, Brain tumor, Clinical Investigations, TCIA, Computational biology, Biology, statistical mapping, TCGA, medicine.disease, Phenotype, IDH mutation, Idh mutation, Lesion, Frontal lobe, medicine, AcademicSubjects/MED00300, AcademicSubjects/MED00310, medicine.symptom, Cluster analysis, brain tumor
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d641899ca7e538f40eceac4a0c946d0e
https://pubmed.ncbi.nlm.nih.gov/34409295 -
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المؤلفون: Elise Brimble, Ingrid Scheffer, Judith Bluvstein, Colleen Campbell, Samuel Berkovic, Laura Jansen, Susannah Cornes, Andrew Allen, Orrin Devinsky, Brenda Porter, Kristen Park, Nicholas Stong
المصدر: Genetics in Medicine
مصطلحات موضوعية: Male, 0301 basic medicine, SCN8A, Genotype, Sequence analysis, Population, Biology, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Humans, Missense mutation, Amino Acid Sequence, Genetic Testing, whole-exome sequencing, education, Exome, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Genetic testing, Sequence (medicine), Genetics, education.field_of_study, Epilepsy, Base Sequence, medicine.diagnostic_test, Brief Report, Exons, Sequence Analysis, DNA, 3. Good health, Alternative Splicing, Phenotype, epileptic encephalopathy, 030104 developmental biology, Amino Acid Substitution, NAV1.6 Voltage-Gated Sodium Channel, alternative exon, Mutation, Female, 030217 neurology & neurosurgery