. . . . . . . "[Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:10:44+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .