[A single mutation (c.3503 _ 3504delTC) is the allele causing Mucolipidosis II in the Saguenay-Lac-Saint-Jean population, and its high carrier rate is most likely explained by a founder effect.]. 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