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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