Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy


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Harel T., YEŞİL G., Bayram Y., Coban-Akdemir Z., Charng W., Karaca E., ...More

American Journal of Human Genetics, vol.98, no.3, pp.562-570, 2016 (SCI-Expanded, Scopus) identifier identifier identifier