. . . . . . . . . . . . "[In summary, H235Y is the first mutation in the β-sheet of the (β/α)₈-barrel domain of the β-subunit that abolishes α-β and β-β dimer formation; the presented patient is the second patient to exhibit the motor neuron disease phenotype with P417L and a non-functional allele of HEXB.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:49:31+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .