Associated Papers
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.
Gangfuß A et al.
American Journal of Medical Genetics. Part A, 2022
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Guo H et al.
Science Advances, 2019
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