The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis
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DOI: 10.1101/mcs.a002063
Abstract: GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome and lethal arthrogryposis… read more here.
Keywords: horn cell; gle1 associated; motor; arthrogryposis ... See more keywords