The American Journal of Human Genetics
Volume 106, Issue 2, 6 February 2020, Pages 246-255
ReportBi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
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Keywords
muscular hypotonia
neurodevelopmental disorder
epilepsy
TULIP1
GARNL1
RalA signaling
West syndrome
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These authors contributed equally to this work
© 2020 American Society of Human Genetics.