Identification of novel candidate disease genes from de novo exonic copy number variants
- Resource Type
- Source
- Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017) - Subject
0301 basic medicine INTELLECTUAL DISABILITY lcsh:Medicine Serine-Threonine Kinase 3 Cohort Studies CHROMOSOMAL MICROARRAY Copy-number variation de novo variants Genetics (clinical) Genetics education.field_of_study Intracellular Signaling Peptides and Proteins 1184 Genetics, developmental biology, physiology Exons 3. Good health Exon targeted array CGH Molecular Medicine Intragenic copy number variants DNA microarray lcsh:QH426-470 DNA Copy Number Variations Population ARRAY CGH Protein Serine-Threonine Kinases Biology COGNITIVE PHENOTYPES GENOMIC DISORDERS 03 medical and health sciences MENDELIAN DISORDERS Humans CLINICAL DIAGNOSTIC-TEST education Molecular Biology Gene PERSISTENT GASTROESOPHAGEAL-REFLUX Retrospective Studies Homeodomain Proteins CNVs Whole genome sequencing Autosome Whole Genome Sequencing Genome, Human Research AUTISM SPECTRUM DISORDER SYNDROMIC DEVELOPMENTAL DELAY lcsh:R Genetic Diseases, Inborn Membrane Proteins Human genetics lcsh:Genetics 030104 developmental biology Neurodevelopmental Disorders Human genome 3111 Biomedicine Transcription Factors - Language
- ISSN
- 1756-994X