[Sequencing of the CYP17A1 gene demonstrated homozygous transversion of cytosine to adenine (TCA→TAA) in exon 5, which causes a premature stop codon at position 288 (Ser288X).]. 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