Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome
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DOI: 10.1038/hgv.2018.14
Abstract: The LARP7 gene encodes a chaperone protein of the noncoding RNA 75 K, and mutations in this gene have been identified in patients with Alazami syndrome. Herein, we report another Japanese patient with Alazami syndrome and… read more here.
Keywords: alazami syndrome; patient alazami; novel compound; larp7 gene ... See more keywords