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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. 2020 04 22; 106(2):237-245.e8.
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subject areas
Adolescent
Adult
Age of Onset
Animals
Centrosome
Child
Child, Preschool
Chromosome Aberrations
Classical Lissencephalies and Subcortical Band Heterotopias
Cytoskeletal Proteins
Female
Gene Knockdown Techniques
Genetic Variation
Heterozygote
Humans
Infant
Magnetic Resonance Imaging
Male
Mice
Mutation
Oncogene Proteins, Fusion
Pedigree
Seizures
Young Adult
authors with profiles
William B. Dobyns