Associated Papers
Novel Variants Identified in Families With SNX27-Related Neurodevelopmental Disorder, Aiding in Characterizing Its Genotypic and Phenotypic Spectrum.
Shan T et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2026
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.
Parente DJ et al.
Clinical Genetics, 2020
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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