[A single base change in intron 7 creates a high-affinity hnRNP A1 binding site, forming an exonic splicing silencer, leading to the exclusion of exon 7 and spinal muscular atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE