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., ...Daha Fazla

American Journal of Human Genetics, cilt.98, sa.3, ss.562-570, 2016 (SCI-Expanded) identifier identifier identifier