[Study found that various PLP1 mutations result in missplicing, including a missense in exon 2 and a nucleotide substitution in intron 3 outside the donor and acceptor splicing sites in Pelizaeus-Merzbacher disease and spastic paraplegia patients.]. 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