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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Am J Hum Genet. 2020 05 07; 106(5):623-631.
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subject areas
Active Transport, Cell Nucleus
Active Transport, Cell Nucleus
Alleles
Alleles
Animals
Animals
beta Karyopherins
beta Karyopherins
Brain
Brain
Cell Nucleus
Cell Nucleus
Child, Preschool
Child, Preschool
Dendrites
Dendrites
Drosophila melanogaster
Drosophila melanogaster
Drosophila Proteins
Drosophila Proteins
Eye Abnormalities
Eye Abnormalities
Female
Female
Fibroblasts
Fibroblasts
Genes, Recessive
Genes, Recessive
Heart Defects, Congenital
Heart Defects, Congenital
Humans
Humans
Infant
Infant
Infant, Newborn
Infant, Newborn
Jews
Jews
Loss of Function Mutation
Loss of Function Mutation
Male
Male
Nuclear Pore Complex Proteins
Nuclear Pore Complex Proteins
Seizures
Seizures
Syndrome
Syndrome
authors with profiles
Danielle Demarzo