Associated Papers
EMC10 Gene Variants May Cause Dual Molecular Effects on the Neuropsychiatric Disease Pattern.
Bolat H et al.
Developmental Neurobiology, 2025
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
37745687 (PubMed )
Supplement: Table2.xlsx › TableS2
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Kaiyrzhanov R et al.
Annals of Clinical and Translational Neurology, 2022
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