. . . . . . . "[The adult form of Sandhoff disease with the motor neuron disease phenotype is a rare neurodegenerative disorder caused by mutations in HEXB encoding the ?-subunit of ?-hexosaminidase, yet the properties of mutant ?-subunits of the disease have not been fully determined.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:13:14+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .