[The mutation responsible was a de novo alpha 28 Arg-->Cys substitution (CGT-->TGT) in spectrin, a mutation known to cause hereditary elliptocytosis or hereditary pyropoikilocytosis.]. 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