Associated Papers
Novel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation.
Wang G et al.
Frontiers in Molecular Neuroscience, 2023
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects.
Marquez J et al.
The Journal of Clinical Investigation, 2020
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
Geetha TS et al.
Molecular Genetics & Genomic Medicine, 2018
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Harel T et al.
American Journal of Human Genetics, 2016
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