A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Keyphrases

• Missense mutation 100%
• TRAPPC6A 100%
• Neurodevelopmental Syndrome 100%
• Dysmorphic Features 100%
• Intellectual Disability 75%
• TRAPP Complex 50%
• Polydactyly 50%
• Clinical Syndromes 50%
• Expression Level 25%
• Array Comparative Genomic Hybridization (aCGH) 25%
• Consanguineous Family 25%
• Developmental Delay 25%
• Regions of Homozygosity 25%
• Childhood-onset 25%
• Exome Sequencing 25%
• RSPH6A 25%
• Disease Phenotype 25%
• TRAPPC2 25%
• TRAPPC11 25%
• ALKBH8 25%
• Skeletal Abnormalities 25%
• MG132 25%
• ANKK1 25%
• Language Delay 25%
• Developmental Pathways 25%
• Protease Inhibitors 25%
• Neurodevelopmental Abnormalities 25%
• Full-length cDNA 25%
• AMOTL1 25%
• TRAPPC9 25%
• Facial Dysmorphism 25%
• HEK293 Cells 25%
• Homozygous mutation 25%
• Speech Impairment 25%
• PolyPhen-2 25%

Medicine and Dentistry

• Disease 100%
• Missense Mutation 100%
• Polydactyly 100%
• Dysmorphic Feature 100%
• Clinical Syndrome 100%
• Complementary DNA 50%
• Array Comparative Genomic Hybridization 50%
• Homozygosity 50%
• Exome Sequencing 50%
• Proteasome Inhibitor 50%
• Benzyloxycarbonylleucylleucylleucinal 50%
• Speech Delay 50%
• Speech Disorder 50%
• Developmental Delay 50%
• Skeleton Malformation 50%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Missense Mutation 100%
• Wild Type 66%
• Homozygosity 33%
• Array Comparative Genomic Hybridization 33%
• Candidate Gene 33%
• Exome Sequencing 33%
• Proteasome Inhibitor 33%
• MG132 33%
• ANKK1 33%