Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT

Medicine and Dentistry

• Exome Sequencing 100%
• Spondyloepiphyseal Dysplasia 100%
• Diseases 66%
• Inheritance 66%
• Filtration 66%
• Bone Dysplasia 66%
• Inpatient 66%
• Cells 66%
• Development 33%
• Phenotype 33%
• Etiology 33%
• Diagnosis 33%
• Intron 33%
• Genetic Heterogeneity 33%
• Life 33%
• Skeletal System 33%
• Patient 33%
• Human Genome 33%
• Male 33%
• Pathogenicity 33%

INIS

• data 100%
• patients 100%
• mutations 100%
• humans 33%
• phenotype 33%
• diseases 33%
• losses 33%
• messenger-rna 33%
• etiology 33%
• males 33%
• introns 33%
• turkey 33%
• variability (genetic) 33%

Biochemistry, Genetics and Molecular Biology

• Mutation 100%
• Dysplasia 100%
• Exome Sequencing 100%
• Filtration 40%
• Inheritance 40%
• Wild Type 20%
• Development 20%
• Phenotype 20%
• Allele 20%
• Bioinformatics 20%
• Intron 20%
• Genetic Heterogeneity 20%
• Life 20%
• Human Genome 20%