[A branch-site mutation leading to abnormal splicing of exon 13 of the endoglin transcript was identified in a child with hereditary hemorrhagic telangiectasia related pulmonary arterial hypertension.]. 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