Shao DD et al. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021; 23(6):1158-1162. PMID: 33531666.
Umair M et al. EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. Clin Genet. 2020;98(6):555-561. PMID: 32869858.
Kaiyrzhanov R et al. Biallelic loss of EMC10 leads to mild to severe intellectual disability. Ann Clin Transl Neurol. 2022;9(7):1080-1089. PMID: 35684946.
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