A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Medicine and Dentistry

• Mediator 100%
• Carboxy Terminal Sequence 100%
• Degenerative Disease 100%
• Diseases 40%
• Neurodegeneration 40%
• Prematurity 20%
• Neurologic Disease 20%
• Genetic Disorder 20%
• Myoclonus Seizure 20%
• Exome Sequencing 20%
• Microcephaly 20%
• Brain Development 20%
• Clustered Regularly Interspaced Short Palindromic Repeat 20%
• Brain Imaging 20%
• Protein Function 20%
• Pediatrics 20%
• Cas9 20%
• Knockout Model 20%
• Genome Sequencing 20%
• Clinical Imaging 20%
• Startle Response 20%
• Mediator Complex 20%
• Fibroblast Cell Line 20%
• Fibroblast 20%
• Western Blotting 20%
• Reverse Transcription Polymerase Chain Reaction 20%

Neuroscience

• C-Terminus 100%
• Neurodegenerative Disorder 100%
• Neurodegeneration 66%
• Fibroblast 66%
• Myoclonic Seizure 33%
• Cell Line 33%
• Brain Development 33%
• Brain Imaging 33%
• Microcephaly 33%
• Nervous System Disorder 33%
• CRISPR 33%
• Protein Function 33%
• Startle Response 33%
• Mediator Complex 33%
• Reverse Transcription Polymerase Chain Reaction 33%
• Western Blotting 33%

Biochemistry, Genetics and Molecular Biology

• C-Terminus 100%
• Mediator 100%
• Genetics 40%
• Zebra Fish 40%
• Fibroblast 40%
• RNA 20%
• Exome Sequencing 20%
• Startle Reflex 20%
• Protein Function 20%
• Knockout Model 20%
• Genome Sequencing 20%
• Brain Development 20%
• CRISPR 20%
• Cas9 20%
• Mediator Complex 20%
• Western Blotting 20%
• Reverse Transcription Polymerase Chain Reaction 20%