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De novo variants in DENND5B cause a neurodevelopmental disorder
Undiagnosed Diseases Network
Kennedy Krieger Institute
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Biochemistry, Genetics and Molecular Biology
Lipid
100%
Intracellular Transport
100%
Intracellular Membrane
100%
Dynamics
50%
Protein Folding
50%
Confocal Microscopy
50%
Isoform
50%
Exome Sequencing
50%
GTPase
50%
Guanine Nucleotide Exchange Factor
50%
Biochemical Analysis
50%
Computer Model
50%
Neuroscience
Neurodevelopmental Disorder
100%
Intracellular Transport
100%
Intracellular Membrane
100%
Cognitive Disorders
50%
Confocal Microscopy
50%
Protein
50%
GTPase
50%
Protein Folding
50%
Guanine Nucleotide Exchange Factor
50%
Exome Sequencing
50%
Keyphrases
Intracellular Membrane Trafficking
50%
DENN Domain
50%