. . . . . . . . . . . . "[Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2016-01-25"^^ . "2016-05-13T12:41:54+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .