Associated Papers
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
Markus F et al.
Journal of Human Genetics, 2021
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
Oegema R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
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